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NM_000179.3(MSH6):c.2225A>G (p.Asn742Ser) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 25, 2022
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:
RCV002429525.9

Allele description [Variation Report for NM_000179.3(MSH6):c.2225A>G (p.Asn742Ser)]

NM_000179.3(MSH6):c.2225A>G (p.Asn742Ser)

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.2225A>G (p.Asn742Ser)
HGVS:
  • NC_000002.12:g.47800208A>G
  • NG_007111.1:g.22062A>G
  • NM_000179.3:c.2225A>GMANE SELECT
  • NM_001281492.2:c.1835A>G
  • NM_001281493.2:c.1319A>G
  • NM_001281494.2:c.1319A>G
  • NP_000170.1:p.Asn742Ser
  • NP_000170.1:p.Asn742Ser
  • NP_001268421.1:p.Asn612Ser
  • NP_001268422.1:p.Asn440Ser
  • NP_001268423.1:p.Asn440Ser
  • LRG_219t1:c.2225A>G
  • LRG_219:g.22062A>G
  • LRG_219p1:p.Asn742Ser
  • NC_000002.11:g.48027347A>G
  • NM_000179.2:c.2225A>G
Protein change:
N440S
Links:
dbSNP: rs878853715
NCBI 1000 Genomes Browser:
rs878853715
Molecular consequence:
  • NM_000179.3:c.2225A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281492.2:c.1835A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281493.2:c.1319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281494.2:c.1319A>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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002730215Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 25, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

Tung N, Lin NU, Kidd J, Allen BA, Singh N, Wenstrup RJ, Hartman AR, Winer EP, Garber JE.

J Clin Oncol. 2016 May 1;34(13):1460-8. doi: 10.1200/JCO.2015.65.0747. Epub 2016 Mar 14.

PubMed [citation]
PMID:
26976419
PMCID:
PMC4872307

Details of each submission

From Ambry Genetics, SCV002730215.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.N742S variant (also known as c.2225A>G), located in coding exon 4 of the MSH6 gene, results from an A to G substitution at nucleotide position 2225. The asparagine at codon 742 is replaced by serine, an amino acid with highly similar properties. This alteration has been reported in a cohort of 488 patients with stages I to III breast cancer who were tested with a 25-gene panel test (Tung N et al. J. Clin. Oncol., 2016 May;34:1460-8). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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: Oct 26, 2024