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NM_000179.3(MSH6):c.691G>A (p.Val231Ile) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 21, 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:
RCV001025804.4

Allele description [Variation Report for NM_000179.3(MSH6):c.691G>A (p.Val231Ile)]

NM_000179.3(MSH6):c.691G>A (p.Val231Ile)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.691G>A (p.Val231Ile)
HGVS:
  • NC_000002.12:g.47798674G>A
  • NG_007111.1:g.20528G>A
  • NM_000179.3:c.691G>AMANE SELECT
  • NM_001281492.2:c.301G>A
  • NM_001281493.2:c.-216G>A
  • NM_001281494.2:c.-216G>A
  • NP_000170.1:p.Val231Ile
  • NP_001268421.1:p.Val101Ile
  • LRG_219t1:c.691G>A
  • LRG_219:g.20528G>A
  • NC_000002.11:g.48025813G>A
  • NC_000002.11:g.48025813G>A
  • NM_000179.2:c.691G>A
Protein change:
V101I
Links:
dbSNP: rs1572719960
NCBI 1000 Genomes Browser:
rs1572719960
Molecular consequence:
  • NM_001281493.2:c.-216G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001281494.2:c.-216G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000179.3:c.691G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281492.2:c.301G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001188063Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 21, 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, SCV001188063.5

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

Description

The p.V231I variant (also known as c.691G>A), located in coding exon 4 of the MSH6 gene, results from a G to A substitution at nucleotide position 691. The valine at codon 231 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. In addition, the CoDP in silico tool predicts this alteration will have a minor impact on molecular function, with a score of 0.000 (Terui H et al. J. Biomed. Sci. 2013 Apr;20:25). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024