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NM_006500.3(MCAM):c.319A>T (p.Thr107Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 29, 2021
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:
RCV004199429.1

Allele description [Variation Report for NM_006500.3(MCAM):c.319A>T (p.Thr107Ser)]

NM_006500.3(MCAM):c.319A>T (p.Thr107Ser)

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.319A>T (p.Thr107Ser)
HGVS:
  • NC_000011.10:g.119314914T>A
  • NM_006500.3:c.319A>TMANE SELECT
  • NP_006491.2:p.Thr107Ser
  • NC_000011.9:g.119185624T>A
  • NM_006500.2:c.319A>T
Protein change:
T107S
Molecular consequence:
  • NM_006500.3:c.319A>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
SCV003705060Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 29, 2021) 		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, SCV003705060.2

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

Description

The c.319A>T (p.T107S) alteration is located in exon 3 (coding exon 3) of the MCAM gene. This alteration results from a A to T substitution at nucleotide position 319, causing the threonine (T) at amino acid position 107 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