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NM_021913.5(AXL):c.379G>C (p.Val127Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 24, 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:
RCV004305276.1

Allele description [Variation Report for NM_021913.5(AXL):c.379G>C (p.Val127Leu)]

NM_021913.5(AXL):c.379G>C (p.Val127Leu)

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.379G>C (p.Val127Leu)
HGVS:
  • NC_000019.10:g.41221216G>C
  • NM_001699.6:c.379G>C
  • NM_021913.5:c.379G>CMANE SELECT
  • NP_001690.2:p.Val127Leu
  • NP_068713.2:p.Val127Leu
  • NC_000019.9:g.41727121G>C
  • NM_021913.3:c.379G>C
Protein change:
V127L
Molecular consequence:
  • NM_001699.6:c.379G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021913.5:c.379G>C - 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
SCV003962233Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 24, 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 Ambry Genetics, SCV003962233.2

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

Description

The c.379G>C (p.V127L) alteration is located in exon 3 (coding exon 3) of the AXL gene. This alteration results from a G to C substitution at nucleotide position 379, causing the valine (V) at amino acid position 127 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024