NM_000179.3(MSH6):c.545C>G (p.Ala182Gly) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 31, 2024
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:: RCV002343578.3

Allele description [Variation Report for NM_000179.3(MSH6):c.545C>G (p.Ala182Gly)]

NM_000179.3(MSH6):c.545C>G (p.Ala182Gly)

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.545C>G (p.Ala182Gly)

HGVS:

NC_000002.12:g.47795981C>G
NG_007111.1:g.17835C>G
NM_000179.3:c.545C>GMANE SELECT
NM_001281492.2:c.238-2630C>G
NM_001281493.2:c.-279-2630C>G
NM_001281494.2:c.-358C>G
NP_000170.1:p.Ala182Gly
NP_000170.1:p.Ala182Gly
LRG_219t1:c.545C>G
LRG_219:g.17835C>G
LRG_219p1:p.Ala182Gly
NC_000002.11:g.48023120C>G
NM_000179.2:c.545C>G

Protein change:

A182G

Links:

dbSNP: rs876659786

NCBI 1000 Genomes Browser:

rs876659786

Molecular consequence:

NM_001281494.2:c.-358C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001281492.2:c.238-2630C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001281493.2:c.-279-2630C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000179.3:c.545C>G - 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
SCV002653834	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 31, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002653834

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 31, 2024)

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, SCV002653834.3

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

Description

The p.A182G variant (also known as c.545C>G), located in coding exon 3 of the MSH6 gene, results from a C to G substitution at nucleotide position 545. The alanine at codon 182 is replaced by glycine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant 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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