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NM_000179.3(MSH6):c.726C>A (p.Ser242Arg) AND Lynch syndrome 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 1, 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:
RCV002463719.1

Allele description [Variation Report for NM_000179.3(MSH6):c.726C>A (p.Ser242Arg)]

NM_000179.3(MSH6):c.726C>A (p.Ser242Arg)

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.726C>A (p.Ser242Arg)
HGVS:
  • NC_000002.12:g.47798709C>A
  • NG_007111.1:g.20563C>A
  • NM_000179.3:c.726C>AMANE SELECT
  • NM_001281492.2:c.336C>A
  • NM_001281493.2:c.-181C>A
  • NM_001281494.2:c.-181C>A
  • NP_000170.1:p.Ser242Arg
  • NP_000170.1:p.Ser242Arg
  • NP_001268421.1:p.Ser112Arg
  • LRG_219t1:c.726C>A
  • LRG_219:g.20563C>A
  • LRG_219p1:p.Ser242Arg
  • NC_000002.11:g.48025848C>A
  • NM_000179.2:c.726C>A
Protein change:
S112R
Links:
dbSNP: rs1553412151
NCBI 1000 Genomes Browser:
rs1553412151
Molecular consequence:
  • NM_001281493.2:c.-181C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001281494.2:c.-181C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000179.3:c.726C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281492.2:c.336C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lynch syndrome 1
Synonyms:
COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; MSH2-Related Hereditary Non-Polyposis Colon Cancer; Lynch syndrome I; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007356; MedGen: C2936783; Orphanet: 144; OMIM: 120435

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002758564Human Genetics Bochum, Ruhr University Bochum
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 1, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Human Genetics Bochum, Ruhr University Bochum, SCV002758564.1

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

Description

ACMG criteria used to clasify this variant: PM2, BP4

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

Last Updated: Sep 29, 2024