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NM_000179.3(MSH6):c.2431C>A (p.Leu811Ile) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 26, 2017
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:
RCV002458958.2

Allele description [Variation Report for NM_000179.3(MSH6):c.2431C>A (p.Leu811Ile)]

NM_000179.3(MSH6):c.2431C>A (p.Leu811Ile)

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.2431C>A (p.Leu811Ile)
HGVS:
  • NC_000002.12:g.47800414C>A
  • NG_007111.1:g.22268C>A
  • NM_000179.3:c.2431C>AMANE SELECT
  • NM_001281492.2:c.2041C>A
  • NM_001281493.2:c.1525C>A
  • NM_001281494.2:c.1525C>A
  • NP_000170.1:p.Leu811Ile
  • NP_001268421.1:p.Leu681Ile
  • NP_001268422.1:p.Leu509Ile
  • NP_001268423.1:p.Leu509Ile
  • LRG_219t1:c.2431C>A
  • LRG_219:g.22268C>A
  • NC_000002.11:g.48027553C>A
  • NM_000179.2:c.2431C>A
Protein change:
L509I
Links:
dbSNP: rs1669463455
NCBI 1000 Genomes Browser:
rs1669463455
Molecular consequence:
  • NM_000179.3:c.2431C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281492.2:c.2041C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281493.2:c.1525C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281494.2:c.1525C>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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002737521Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 26, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002737521.2

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

Description

The p.L811I variant (also known as c.2431C>A), located in coding exon 4 of the MSH6 gene, results from a C to A substitution at nucleotide position 2431. The leucine at codon 811 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. In addition, the CoDP in silico tool predicts this alteration to have minor impact on molecular function, with a score of 0.010 (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