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NM_006500.3(MCAM):c.949C>A (p.Arg317Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 2, 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:
RCV004354746.1

Allele description [Variation Report for NM_006500.3(MCAM):c.949C>A (p.Arg317Ser)]

NM_006500.3(MCAM):c.949C>A (p.Arg317Ser)

Gene:
MCAM:melanoma cell adhesion molecule [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_006500.3(MCAM):c.949C>A (p.Arg317Ser)
HGVS:
  • NC_000011.10:g.119312341G>T
  • NM_006500.3:c.949C>AMANE SELECT
  • NP_006491.2:p.Arg317Ser
  • NC_000011.9:g.119183051G>T
  • NM_006500.2:c.949C>A
Protein change:
R317S
Molecular consequence:
  • NM_006500.3:c.949C>A - 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
SCV004084257Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 2, 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, SCV004084257.2

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

Description

The c.949C>A (p.R317S) alteration is located in exon 8 (coding exon 8) of the MCAM gene. This alteration results from a C to A substitution at nucleotide position 949, causing the arginine (R) at amino acid position 317 to be replaced by a serine (S). 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 3, 2024