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NM_000251.3(MSH2):c.1984_1985del (p.Gln662fs) 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:
RCV000076330.4

Allele description [Variation Report for NM_000251.3(MSH2):c.1984_1985del (p.Gln662fs)]

NM_000251.3(MSH2):c.1984_1985del (p.Gln662fs)

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.3(MSH2):c.1984_1985del (p.Gln662fs)
HGVS:
  • NC_000002.12:g.47475249_47475250del
  • NG_007110.2:g.77126_77127del
  • NM_000251.3:c.1984_1985delMANE SELECT
  • NM_001258281.1:c.1786_1787del
  • NP_000242.1:p.Gln662fs
  • NP_001245210.1:p.Gln596fs
  • LRG_218:g.77126_77127del
  • NC_000002.11:g.47702388_47702389del
  • NM_000251.1:c.1984_1985del
Protein change:
Q596fs
Links:
dbSNP: rs587779121
NCBI 1000 Genomes Browser:
rs587779121
Molecular consequence:
  • NM_000251.3:c.1984_1985del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258281.1:c.1786_1787del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000107354International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
reviewed by expert panel

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

Citation Link

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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), SCV000107354.3

#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: May 7, 2024