ClinVar Genomic variation as it relates to human health
NM_001256732.3(SSBP2):c.112T>G (p.Ser38Ala)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001256732.3(SSBP2):c.112T>G (p.Ser38Ala)
Variation ID: 2359960 Accession: VCV002359960.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 5q14.1 5: 81650290 (GRCh38) [ NCBI UCSC ] 5: 80946109 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Feb 8, 2023 May 1, 2024 Dec 8, 2021 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001256732.3:c.112T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001243661.1:p.Ser38Ala missense NM_001256733.3:c.112T>G NP_001243662.1:p.Ser38Ala missense NM_001256734.3:c.112T>G NP_001243663.1:p.Ser38Ala missense NM_001256735.3:c.112T>G NP_001243664.1:p.Ser38Ala missense NM_001256736.3:c.112T>G NP_001243665.1:p.Ser38Ala missense NM_001345886.2:c.112T>G NP_001332815.1:p.Ser38Ala missense NM_001394350.1:c.112T>G NP_001381279.1:p.Ser38Ala missense NM_001394351.1:c.100T>G NP_001381280.1:p.Ser34Ala missense NM_001394352.1:c.112T>G NP_001381281.1:p.Ser38Ala missense NM_001400340.1:c.112T>G NP_001387269.1:p.Ser38Ala missense NM_001400341.1:c.112T>G NP_001387270.1:p.Ser38Ala missense NM_001400342.1:c.112T>G NP_001387271.1:p.Ser38Ala missense NM_001400343.1:c.112T>G NP_001387272.1:p.Ser38Ala missense NM_001400344.1:c.112T>G NP_001387273.1:p.Ser38Ala missense NM_001400345.1:c.112T>G NP_001387274.1:p.Ser38Ala missense NM_001400346.1:c.112T>G NP_001387275.1:p.Ser38Ala missense NM_001400347.1:c.112T>G NP_001387276.1:p.Ser38Ala missense NM_001400348.1:c.112T>G NP_001387277.1:p.Ser38Ala missense NM_001400349.1:c.112T>G NP_001387278.1:p.Ser38Ala missense NM_001400350.1:c.112T>G NP_001387279.1:p.Ser38Ala missense NM_001400351.1:c.112T>G NP_001387280.1:p.Ser38Ala missense NM_001400352.1:c.112T>G NP_001387281.1:p.Ser38Ala missense NM_001400353.1:c.112T>G NP_001387282.1:p.Ser38Ala missense NM_001400354.1:c.112T>G NP_001387283.1:p.Ser38Ala missense NM_001400355.1:c.112T>G NP_001387284.1:p.Ser38Ala missense NM_001400356.1:c.-163T>G 5 prime UTR NM_001400357.1:c.112T>G NP_001387286.1:p.Ser38Ala missense NM_001400358.1:c.112T>G NP_001387287.1:p.Ser38Ala missense NM_001400359.1:c.112T>G NP_001387288.1:p.Ser38Ala missense NM_001400360.1:c.-225T>G 5 prime UTR NM_001400361.1:c.-225T>G 5 prime UTR NM_001400362.1:c.-225T>G 5 prime UTR NM_001400363.1:c.-201-13672T>G intron variant NM_001400364.1:c.112T>G NP_001387293.1:p.Ser38Ala missense NM_001400366.1:c.112T>G NP_001387295.1:p.Ser38Ala missense NM_001400367.1:c.-163T>G 5 prime UTR NM_001400368.1:c.-177T>G 5 prime UTR NM_001400369.1:c.112T>G NP_001387298.1:p.Ser38Ala missense NM_001400371.1:c.-115T>G 5 prime UTR NM_001400374.1:c.112T>G NP_001387303.1:p.Ser38Ala missense NM_001400375.1:c.112T>G NP_001387304.1:p.Ser38Ala missense NM_012446.5:c.112T>G NP_036578.2:p.Ser38Ala missense NR_174525.1:n.167T>G non-coding transcript variant NR_174526.1:n.167T>G non-coding transcript variant NR_174527.1:n.167T>G non-coding transcript variant NR_174528.1:n.167T>G non-coding transcript variant NR_174529.1:n.289T>G non-coding transcript variant NR_174530.1:n.167T>G non-coding transcript variant NR_174531.1:n.167T>G non-coding transcript variant NR_174532.1:n.167T>G non-coding transcript variant NR_174533.1:n.167T>G non-coding transcript variant NR_174534.1:n.167T>G non-coding transcript variant NR_174535.1:n.167T>G non-coding transcript variant NR_174536.1:n.167T>G non-coding transcript variant NR_174537.1:n.167T>G non-coding transcript variant NR_174538.1:n.167T>G non-coding transcript variant NR_174539.1:n.167T>G non-coding transcript variant NR_174540.1:n.167T>G non-coding transcript variant NR_174541.1:n.167T>G non-coding transcript variant NR_174542.1:n.167T>G non-coding transcript variant NR_174543.1:n.167T>G non-coding transcript variant NR_174544.1:n.167T>G non-coding transcript variant NR_174545.1:n.167T>G non-coding transcript variant NR_174546.1:n.167T>G non-coding transcript variant NR_174547.1:n.167T>G non-coding transcript variant NR_174548.1:n.167T>G non-coding transcript variant NR_174549.1:n.167T>G non-coding transcript variant NR_174550.1:n.167T>G non-coding transcript variant NR_174551.1:n.167T>G non-coding transcript variant NR_174552.1:n.167T>G non-coding transcript variant NR_174553.1:n.167T>G non-coding transcript variant NR_174554.1:n.167T>G non-coding transcript variant NR_174555.1:n.167T>G non-coding transcript variant NR_174556.1:n.167T>G non-coding transcript variant NR_174557.1:n.167T>G non-coding transcript variant NR_174558.1:n.167T>G non-coding transcript variant NR_174559.1:n.167T>G non-coding transcript variant NR_174560.1:n.167T>G non-coding transcript variant NR_174561.1:n.167T>G non-coding transcript variant NR_174562.1:n.167T>G non-coding transcript variant NR_174563.1:n.190T>G non-coding transcript variant NC_000005.10:g.81650290A>C NC_000005.9:g.80946109A>C NG_051589.1:g.105964T>G - Protein change
- S34A, S38A
- Other names
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- Canonical SPDI
- NC_000005.10:81650289:A:C
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
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The frequency of the allele represented by this VCV record.
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- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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SSBP2 | - | - |
GRCh38 GRCh37 |
12 | 21 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Uncertain significance (1) |
criteria provided, single submitter
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Dec 8, 2021 | RCV004198780.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
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The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
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This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Uncertain significance
(Dec 08, 2021)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV003698443.2
First in ClinVar: Feb 07, 2023 Last updated: May 01, 2024 |
Comment:
The c.112T>G (p.S38A) alteration is located in exon 2 (coding exon 2) of the SSBP2 gene. This alteration results from a T to G substitution … (more)
The c.112T>G (p.S38A) alteration is located in exon 2 (coding exon 2) of the SSBP2 gene. This alteration results from a T to G substitution at nucleotide position 112, causing the serine (S) at amino acid position 38 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (less)
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for this variant ...
HelpRecord last updated Jun 02, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.