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NM_000251.3(MSH2):c.1224T>G (p.Tyr408Ter) AND Lynch syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 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:
RCV003451284.1

Allele description [Variation Report for NM_000251.3(MSH2):c.1224T>G (p.Tyr408Ter)]

NM_000251.3(MSH2):c.1224T>G (p.Tyr408Ter)

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.3(MSH2):c.1224T>G (p.Tyr408Ter)
HGVS:
  • NC_000002.12:g.47429889T>G
  • NG_007110.2:g.31766T>G
  • NM_000251.3:c.1224T>GMANE SELECT
  • NM_001258281.1:c.1026T>G
  • NP_000242.1:p.Tyr408Ter
  • NP_001245210.1:p.Tyr342Ter
  • LRG_218:g.31766T>G
  • NC_000002.11:g.47657028T>G
  • NM_000251.1:c.1224T>G
Protein change:
Y342*
Links:
dbSNP: rs63750132
NCBI 1000 Genomes Browser:
rs63750132
Molecular consequence:
  • NM_000251.3:c.1224T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001258281.1:c.1026T>G - nonsense - [Sequence Ontology: SO:0001587]

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
SCV004188982Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Aug 1, 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., SCV004188982.1

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

Description

This variant is considered pathogenic. This variant creates a termination codon and is 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