NM_000251.2(MSH2):c.2680dup (p.Met894fs) AND Hereditary nonpolyposis colorectal neoplasms

Clinical significance:Uncertain significance (Last evaluated: Apr 9, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000810344.3

Allele description [Variation Report for NM_000251.2(MSH2):c.2680dup (p.Met894fs)]

NM_000251.2(MSH2):c.2680dup (p.Met894fs)

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.2(MSH2):c.2680dup (p.Met894fs)
Other names:
p.Met894AsnfsX5
HGVS:
  • NC_000002.11:g.47709960_47709961insA
  • NC_000002.12:g.47482824dup
  • NG_007110.2:g.84701dup
  • NM_000251.3:c.2680dupMANE SELECT
  • NM_001258281.1:c.2482dup
  • NP_001245210.1:p.Met828fs
  • LRG_218t1:c.2680dup
  • LRG_218:g.84701dup
  • LRG_218p1:p.Met894fs
  • NC_000002.11:g.47709960_47709961insA
  • NC_000002.11:g.47709963_47709964insA
  • NC_000002.11:g.47709963dup
  • NM_000251.1:c.2680dupA
  • NM_000251.2:c.2680dupA
Protein change:
M828fs
Links:
dbSNP: rs876658211
NCBI 1000 Genomes Browser:
rs876658211
Molecular consequence:
  • NM_001258281.1:c.2482dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hereditary nonpolyposis colorectal neoplasms
Identifiers:
MedGen: C0009405; Orphanet: 443090

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000950540Invitaecriteria provided, single submitter
Uncertain significance
(Apr 9, 2020)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.

Casey G, Lindor NM, Papadopoulos N, Thibodeau SN, Moskow J, Steelman S, Buzin CH, Sommer SS, Collins CE, Butz M, Aronson M, Gallinger S, Barker MA, Young JP, Jass JR, Hopper JL, Diep A, Bapat B, Salem M, Seminara D, Haile R; Colon Cancer Family Registry..

JAMA. 2005 Feb 16;293(7):799-809.

PubMed [citation]
PMID:
15713769
PMCID:
PMC2933041

Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.

Lagerstedt-Robinson K, Rohlin A, Aravidis C, Melin B, Nordling M, Stenmark-Askmalm M, Lindblom A, Nilbert M.

Oncol Rep. 2016 Nov;36(5):2823-2835. doi: 10.3892/or.2016.5060. Epub 2016 Sep 1.

PubMed [citation]
PMID:
27601186
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV000950540.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change results in a premature translational stop signal in the MSH2 gene (p.Met894Asnfs*5). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 41 amino acids of the MSH2 protein. This variant is present in population databases (rs756190190, ExAC 0.005%). This variant has been observed in several individuals affected with colorectal cancer (PMID: 15713769, 27601186, 28514183). This variant is also known as 2680_2681insA, M896Xfs in the literature. ClinVar contains an entry for this variant (Variation ID: 229809). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Jul 7, 2021

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