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NM_000251.3(MSH2):c.187dup (p.Val63fs) AND Lynch syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 26, 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:
RCV003452866.1

Allele description [Variation Report for NM_000251.3(MSH2):c.187dup (p.Val63fs)]

NM_000251.3(MSH2):c.187dup (p.Val63fs)

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.3(MSH2):c.187dup (p.Val63fs)
HGVS:
  • NC_000002.12:g.47403378dup
  • NG_007110.2:g.5255dup
  • NM_000251.3:c.187dupMANE SELECT
  • NM_001258281.1:c.-12dup
  • NP_000242.1:p.Val63fs
  • LRG_218:g.5255dup
  • NC_000002.11:g.47630512_47630513insG
  • NC_000002.11:g.47630517dup
  • NM_000251.1:c.187dup
  • NM_000251.1:c.187dupG
Protein change:
V63fs
Links:
dbSNP: rs63750160
NCBI 1000 Genomes Browser:
rs63750160
Molecular consequence:
  • NM_001258281.1:c.-12dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000251.3:c.187dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV004187926Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Jul 26, 2023) 		unknownclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Myriad Genetics, Inc., SCV004187926.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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

Last Updated: Sep 29, 2024