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NM_000251.2(MSH2):c.1552_1553delCA (p.Gln518Valfs) 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:
RCV000076193.2

Allele description

NM_000251.2(MSH2):c.1552_1553delCA (p.Gln518Valfs)

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.2(MSH2):c.1552_1553delCA (p.Gln518Valfs)
HGVS:
  • NC_000002.12:g.47466699_47466700delCA
  • NG_007110.2:g.68576_68577delCA
  • NM_000251.2:c.1552_1553delCA
  • NP_000242.1:p.Gln518Valfs
  • LRG_218t1:c.1552_1553delCA
  • LRG_218:g.68576_68577delCA
  • LRG_218p1:p.Gln518Valfs
  • NC_000002.11:g.47693838_47693839delCA
  • NM_000251.1:c.1552_1553del
Links:
dbSNP: rs63749930
NCBI 1000 Genomes Browser:
rs63749930
Molecular consequence:
  • NM_000251.2:c.1552_1553delCA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Lynch syndrome (HNPCC)
Synonyms:
Hereditary nonpolyposis colon cancer
Identifiers:
MedGen: C1333990; OMIM: PS120435

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000107209InSiGHT
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 InSiGHT, SCV000107209.2

#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: Aug 19, 2017