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NM_002633.3(PGM1):c.99C>T (p.Ala33=) AND not provided

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Dec 16, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000675299.17

Allele description [Variation Report for NM_002633.3(PGM1):c.99C>T (p.Ala33=)]

NM_002633.3(PGM1):c.99C>T (p.Ala33=)

Genes:
LOC129930668:ATAC-STARR-seq lymphoblastoid active region 1127 [Gene]
PGM1:phosphoglucomutase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p31.3
Genomic location:
Preferred name:
NM_002633.3(PGM1):c.99C>T (p.Ala33=)
HGVS:
  • NC_000001.11:g.63593587C>T
  • NG_016966.1:g.5312C>T
  • NM_002633.3:c.99C>TMANE SELECT
  • NP_002624.2:p.Ala33=
  • NC_000001.10:g.64059258C>T
  • NM_002633.2:c.99C>T
Links:
dbSNP: rs373394538
NCBI 1000 Genomes Browser:
rs373394538
Molecular consequence:
  • NM_002633.3:c.99C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000523186GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Dec 16, 2020)
germlineclinical testing

Citation Link,

SCV000800964Mayo Clinic Laboratories, Mayo Clinic
no assertion criteria provided
Likely benign
(Mar 14, 2017)
unknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000523186.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV000800964.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 26, 2024