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NM_000251.3(MSH2):c.1661+1G>C AND Lynch syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 3, 2023
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:
RCV003449722.1

Allele description [Variation Report for NM_000251.3(MSH2):c.1661+1G>C]

NM_000251.3(MSH2):c.1661+1G>C

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.1661+1G>C
HGVS:
  • NC_000002.12:g.47466809G>C
  • NG_007110.2:g.68686G>C
  • NM_000251.1:c.1661+1G>C
  • NM_000251.3:c.1661+1G>CMANE SELECT
  • NM_001258281.1:c.1463+1G>C
  • NM_001406631.1:c.1661+1G>C
  • NM_001406632.1:c.1661+1G>C
  • NM_001406633.1:c.1661+1G>C
  • NM_001406634.1:c.1661+1G>C
  • NM_001406635.1:c.1661+1G>C
  • NM_001406636.1:c.1628+1G>C
  • NM_001406637.1:c.1661+1G>C
  • NM_001406638.1:c.1700+1G>C
  • NM_001406639.1:c.1661+1G>C
  • NM_001406640.1:c.1661+1G>C
  • NM_001406641.1:c.1661+1G>C
  • NM_001406642.1:c.1661+1G>C
  • NM_001406643.1:c.1661+1G>C
  • NM_001406644.1:c.1661+1G>C
  • NM_001406645.1:c.1661+1G>C
  • NM_001406646.1:c.1661+1G>C
  • NM_001406647.1:c.1511+1G>C
  • NM_001406648.1:c.1661+1G>C
  • NM_001406649.1:c.1511+1G>C
  • NM_001406650.1:c.1511+1G>C
  • NM_001406651.1:c.1511+1G>C
  • NM_001406652.1:c.1511+1G>C
  • NM_001406653.1:c.1601+1G>C
  • NM_001406654.1:c.1241+1G>C
  • NM_001406655.1:c.1661+1G>C
  • NM_001406656.1:c.764+1G>C
  • NM_001406657.1:c.1661+1G>C
  • NM_001406658.1:c.305+1G>C
  • NM_001406659.1:c.305+1G>C
  • NM_001406660.1:c.305+1G>C
  • NM_001406661.1:c.305+1G>C
  • NM_001406662.1:c.305+1G>C
  • NM_001406669.1:c.305+1G>C
  • NM_001406674.1:c.1661+1G>C
  • LRG_218t1:c.1661+1G>C
  • LRG_218:g.68686G>C
  • NC_000002.11:g.47693948G>C
  • NM_000251.2:c.1661+1G>C
Links:
dbSNP: rs267607969
NCBI 1000 Genomes Browser:
rs267607969
Molecular consequence:
  • NM_000251.3:c.1661+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001258281.1:c.1463+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406631.1:c.1661+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406632.1:c.1661+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406633.1:c.1661+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406634.1:c.1661+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406635.1:c.1661+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406636.1:c.1628+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406637.1:c.1661+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406638.1:c.1700+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406639.1:c.1661+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406640.1:c.1661+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406641.1:c.1661+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406642.1:c.1661+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406643.1:c.1661+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406644.1:c.1661+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406645.1:c.1661+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406646.1:c.1661+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406647.1:c.1511+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406648.1:c.1661+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406649.1:c.1511+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406650.1:c.1511+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406651.1:c.1511+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406652.1:c.1511+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406653.1:c.1601+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406654.1:c.1241+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406655.1:c.1661+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406656.1:c.764+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406657.1:c.1661+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406658.1:c.305+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406659.1:c.305+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406660.1:c.305+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406661.1:c.305+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406662.1:c.305+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406669.1:c.305+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406674.1:c.1661+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV004188131Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Aug 3, 2023) 		unknownclinical 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 providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.

Tournier I, Vezain M, Martins A, Charbonnier F, Baert-Desurmont S, Olschwang S, Wang Q, Buisine MP, Soret J, Tazi J, Frébourg T, Tosi M.

Hum Mutat. 2008 Dec;29(12):1412-24. doi: 10.1002/humu.20796.

PubMed [citation]
PMID:
18561205

Details of each submission

From Myriad Genetics, Inc., SCV004188131.1

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

Description

This variant is considered pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function. mRNA analysis has demonstrated abnormal mRNA splicing occurs [PMID: 18561205].

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

Last Updated: Jun 9, 2024