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NM_000251.3(MSH2):c.*221G>T AND Lynch syndrome 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 7, 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:
RCV001137352.4

Allele description [Variation Report for NM_000251.3(MSH2):c.*221G>T]

NM_000251.3(MSH2):c.*221G>T

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.3(MSH2):c.*221G>T
HGVS:
  • NC_000002.12:g.47483170G>T
  • NG_007110.2:g.85047G>T
  • NM_000251.3:c.*221G>TMANE SELECT
  • NM_001258281.1:c.*221G>T
  • LRG_218t1:c.*221G>T
  • LRG_218:g.85047G>T
  • NC_000002.11:g.47710309G>T
  • NM_000251.1:c.*221G>T
  • NM_000251.2:c.*221G>T
Links:
dbSNP: rs587779060
NCBI 1000 Genomes Browser:
rs587779060
Molecular consequence:
  • NM_000251.3:c.*221G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001258281.1:c.*221G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001297283Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(Jun 7, 2019) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.

Thompson BA, Goldgar DE, Paterson C, Clendenning M, Walters R, Arnold S, Parsons MT, Michael D W, Gallinger S, Haile RW, Hopper JL, Jenkins MA, Lemarchand L, Lindor NM, Newcomb PA, Thibodeau SN; Colon Cancer Family Registry., Young JP, Buchanan DD, Tavtigian SV, Spurdle AB.

Hum Mutat. 2013 Jan;34(1):200-9. doi: 10.1002/humu.22213. Epub 2012 Oct 11.

PubMed [citation]
PMID:
22949379
PMCID:
PMC3538359

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001297283.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Jun 9, 2024