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NM_000251.3(MSH2):c.145_146del (p.Asp49fs) 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:
RCV000076168.2

Allele description

NM_000251.3(MSH2):c.145_146del (p.Asp49fs)

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.3(MSH2):c.145_146del (p.Asp49fs)
HGVS:
  • NC_000002.12:g.47403336_47403337del
  • NG_007110.2:g.5213_5214del
  • NM_000251.3:c.145_146delMANE SELECT
  • NM_001258281.1:c.-30-24_-30-23del
  • NP_000242.1:p.Asp49fs
  • LRG_218:g.5213_5214del
  • NC_000002.11:g.47630475_47630476del
  • NM_000251.1:c.145_146del
Protein change:
D49fs
Links:
dbSNP: rs63750334
NCBI 1000 Genomes Browser:
rs63750334
Molecular consequence:
  • NM_000251.3:c.145_146del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258281.1:c.-30-24_-30-23del - 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
SCV000107182International 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

SCV000107182

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), SCV000107182.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

Coding sequence variation introducing premature termination codon

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

Last Updated: Nov 5, 2022