NM_000179.3(MSH6):c.931A>C (p.Lys311Gln) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 28, 2019
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:: RCV000562177.3

Allele description [Variation Report for NM_000179.3(MSH6):c.931A>C (p.Lys311Gln)]

NM_000179.3(MSH6):c.931A>C (p.Lys311Gln)

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.931A>C (p.Lys311Gln)

HGVS:

NC_000002.12:g.47798914A>C
NG_007111.1:g.20768A>C
NM_000179.3:c.931A>CMANE SELECT
NM_001281492.2:c.541A>C
NM_001281493.2:c.25A>C
NM_001281494.2:c.25A>C
NP_000170.1:p.Lys311Gln
NP_000170.1:p.Lys311Gln
NP_001268421.1:p.Lys181Gln
NP_001268422.1:p.Lys9Gln
NP_001268423.1:p.Lys9Gln
LRG_219t1:c.931A>C
LRG_219:g.20768A>C
LRG_219p1:p.Lys311Gln
NC_000002.11:g.48026053A>C
NM_000179.2:c.931A>C

Protein change:

K181Q

Links:

dbSNP: rs1323987464

NCBI 1000 Genomes Browser:

rs1323987464

Molecular consequence:

NM_000179.3:c.931A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001281492.2:c.541A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001281493.2:c.25A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001281494.2:c.25A>C - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000673970	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 28, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000673970

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 28, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000673970.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.K311Q variant (also known as c.931A>C), located in coding exon 4 of the MSH6 gene, results from an A to C substitution at nucleotide position 931. The lysine at codon 311 is replaced by glutamine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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