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NM_000251.3(MSH2):c.212-478T>G AND Lynch syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 5, 2013
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000076396.2

Allele description

NM_000251.3(MSH2):c.212-478T>G

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.212-478T>G
HGVS:
  • NC_000002.12:g.47407923T>G
  • NG_007110.2:g.9800T>G
  • NM_000251.3:c.212-478T>GMANE SELECT
  • NM_001258281.1:c.14-478T>G
  • LRG_218:g.9800T>G
  • NC_000002.11:g.47635062T>G
  • NM_000251.1:c.212-478T>G
Links:
dbSNP: rs587779138
NCBI 1000 Genomes Browser:
rs587779138
Molecular consequence:
  • NM_000251.3:c.212-478T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258281.1:c.14-478T>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Lynch syndrome
Identifiers:
MONDO: MONDO:0005835; MedGen: C4552100

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000107433International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
reviewed by expert panel

(Guidelines v1.9)		Pathogenic
(Sep 5, 2013) 		germlineresearch

Citation Link

Description

Classified with v1.9 guidelines: https://docs.google.com/file/d/0B3JL6rP6JzhoN2EydHRVMEI1UGs

SCV000107433

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Details of each submission

From International Society for Gastrointestinal Hereditary Tumours (InSiGHT), SCV000107433.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

Variant causes splicing aberration, >2 MSI-H, segregation with disease & AF 0.00.

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

Last Updated: Nov 29, 2022