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NM_000251.3(MSH2):c.1981A>T (p.Lys661Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 11, 2017
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:
RCV002422898.2

Allele description [Variation Report for NM_000251.3(MSH2):c.1981A>T (p.Lys661Ter)]

NM_000251.3(MSH2):c.1981A>T (p.Lys661Ter)

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.1981A>T (p.Lys661Ter)
HGVS:
  • NC_000002.12:g.47475246A>T
  • NG_007110.2:g.77123A>T
  • NM_000251.3:c.1981A>TMANE SELECT
  • NM_001258281.1:c.1783A>T
  • NP_000242.1:p.Lys661Ter
  • NP_001245210.1:p.Lys595Ter
  • LRG_218:g.77123A>T
  • NC_000002.11:g.47702385A>T
  • NM_000251.1:c.1981A>T
Protein change:
K595*
Links:
dbSNP: rs1553368707
NCBI 1000 Genomes Browser:
rs1553368707
Molecular consequence:
  • NM_000251.3:c.1981A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001258281.1:c.1783A>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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002719041Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Oct 11, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002719041.2

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

Description

The p.K661* pathogenic mutation (also known as c.1981A>T), located in coding exon 12 of the MSH2 gene, results from an A to T substitution at nucleotide position 1981. This changes the amino acid from a lysine to a stop codon within coding exon 12. 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