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NM_000251.3(MSH2):c.2135dup (p.Gly713fs) AND Lynch syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 7, 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:
RCV003452892.1

Allele description [Variation Report for NM_000251.3(MSH2):c.2135dup (p.Gly713fs)]

NM_000251.3(MSH2):c.2135dup (p.Gly713fs)

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.3(MSH2):c.2135dup (p.Gly713fs)
HGVS:
  • NC_000002.12:g.47476496dup
  • NG_007110.2:g.78373dup
  • NM_000251.3:c.2135dupMANE SELECT
  • NM_001258281.1:c.1937dup
  • NP_000242.1:p.Gly713fs
  • NP_001245210.1:p.Gly647fs
  • LRG_218:g.78373dup
  • NC_000002.11:g.47703634_47703635insT
  • NC_000002.11:g.47703635dup
  • NM_000251.1:c.2135dup
  • NM_000251.2:c.2135dupT
Protein change:
G647fs
Links:
dbSNP: rs63751453
NCBI 1000 Genomes Browser:
rs63751453
Molecular consequence:
  • NM_000251.3:c.2135dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258281.1:c.1937dup - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004187992Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Aug 7, 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., SCV004187992.1

#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: Jun 9, 2024