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NM_000251.3(MSH2):c.1803dup (p.Leu602fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 5, 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:
RCV000167124.3

Allele description [Variation Report for NM_000251.3(MSH2):c.1803dup (p.Leu602fs)]

NM_000251.3(MSH2):c.1803dup (p.Leu602fs)

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.3(MSH2):c.1803dup (p.Leu602fs)
HGVS:
  • NC_000002.12:g.47475068dup
  • NG_007110.2:g.76945dup
  • NM_000251.3:c.1803dupMANE SELECT
  • NM_001258281.1:c.1605dup
  • NP_000242.1:p.Leu602fs
  • NP_001245210.1:p.Leu536fs
  • LRG_218:g.76945dup
  • NC_000002.11:g.47702206_47702207insG
  • NC_000002.11:g.47702207dup
  • NM_000251.1:c.1803dupG
  • p.L602AFS*42
Protein change:
L536fs
Links:
dbSNP: rs786203704
NCBI 1000 Genomes Browser:
rs786203704
Molecular consequence:
  • NM_000251.3:c.1803dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258281.1:c.1605dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000217954Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Sep 5, 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

Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.

Espenschied CR, LaDuca H, Li S, McFarland R, Gau CL, Hampel H.

J Clin Oncol. 2017 Aug 1;35(22):2568-2575. doi: 10.1200/JCO.2016.71.9260. Epub 2017 May 17.

PubMed [citation]
PMID:
28514183
PMCID:
PMC7186580

Details of each submission

From Ambry Genetics, SCV000217954.8

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

Description

The c.1803dupG (p.L602Afs*42) alteration, located in exon 12 (coding exon 12) of the MSH2 gene, consists of a duplication of G at position 1803, causing a translational frameshift with a predicted alternate stop codon after 42 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This mutation has been identified in a patient undergoing multi-gene panel testing for a personal and/or family history of cancer (Espenschied, 2017). Based on the available evidence, this alteration is classified as pathogenic.

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

Last Updated: Sep 29, 2024