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NM_021913.5(AXL):c.236C>T (p.Ala79Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 11, 2023
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:
RCV003489963.1

Allele description [Variation Report for NM_021913.5(AXL):c.236C>T (p.Ala79Val)]

NM_021913.5(AXL):c.236C>T (p.Ala79Val)

Gene:
AXL:AXL receptor tyrosine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_021913.5(AXL):c.236C>T (p.Ala79Val)
HGVS:
  • NC_000019.10:g.41220786C>T
  • NM_001699.6:c.236C>T
  • NM_021913.5:c.236C>TMANE SELECT
  • NP_001690.2:p.Ala79Val
  • NP_068713.2:p.Ala79Val
  • NC_000019.9:g.41726691C>T
  • NC_000019.9:g.41726691C>T
  • NM_021913.4:c.236C>T
Protein change:
A79V
Links:
dbSNP: rs776776986
NCBI 1000 Genomes Browser:
rs776776986
Molecular consequence:
  • NM_001699.6:c.236C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021913.5:c.236C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004240870Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Dec 11, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004240870.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: AXL c.236C>T (p.Ala79Val) results in a non-conservative amino acid change located in the Immunoglobulin-like domain (IPR007110) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00028 in 251344 control chromosomes. This frequency does not allow for any conclusion about variant significance. To our knowledge, no occurrence of c.236C>T in individuals affected with Hypogonadotropic Hypogonadism 7 With Or Without Anosmia and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024