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NM_000251.3(MSH2):c.85A>T (p.Lys29Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 16, 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:
RCV004022693.1

Allele description [Variation Report for NM_000251.3(MSH2):c.85A>T (p.Lys29Ter)]

NM_000251.3(MSH2):c.85A>T (p.Lys29Ter)

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.85A>T (p.Lys29Ter)
HGVS:
  • NC_000002.12:g.47403276A>T
  • NG_007110.2:g.5153A>T
  • NM_000251.1:c.85A>T
  • NM_000251.3:c.85A>TMANE SELECT
  • NM_001258281.1:c.-30-84A>T
  • NP_000242.1:p.Lys29Ter
  • NP_000242.1:p.Lys29Ter
  • LRG_218t1:c.85A>T
  • LRG_218:g.5153A>T
  • LRG_218p1:p.Lys29Ter
  • NC_000002.11:g.47630415A>T
  • NM_000251.2:c.85A>T
Protein change:
K29*
Links:
dbSNP: rs1060502001
NCBI 1000 Genomes Browser:
rs1060502001
Molecular consequence:
  • NM_001258281.1:c.-30-84A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000251.3:c.85A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005033698Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Nov 16, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Real-world outcome of universal screening for Lynch syndrome in Japanese patients with colorectal cancer highlights the importance of targeting patients with young-onset disease.

Yamada A, Matsuoka Y, Minamiguchi S, Yamamoto Y, Kondo T, Sunami T, Horimatsu T, Kawada K, Seno H, Torishima M, Murakami H, Yamada T, Kosugi S, Sugano K, Muto M.

Mol Clin Oncol. 2021 Dec;15(6):247. doi: 10.3892/mco.2021.2409. Epub 2021 Oct 1.

PubMed [citation]
PMID:
34712484
PMCID:
PMC8548998

Details of each submission

From Ambry Genetics, SCV005033698.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.K29* pathogenic mutation (also known as c.85A>T), located in coding exon 1 of the MSH2 gene, results from an A to T substitution at nucleotide position 85. This changes the amino acid from a lysine to a stop codon within coding exon 1. This variant was reported in a 48 year old female proband diagnosed with rectal cancer that demonstrated absent MSH6 and MSH2 expression by immunohistochemistry (Yamada A et al. Mol Clin Oncol, 2021 Dec;15:247). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Sep 29, 2024