NM_000251.3(MSH2):c.182A>C (p.Gln61Pro) AND Hereditary nonpolyposis colorectal neoplasms

Clinical significance:Uncertain significance (Last evaluated: Aug 31, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001218170.2

Allele description [Variation Report for NM_000251.3(MSH2):c.182A>C (p.Gln61Pro)]

NM_000251.3(MSH2):c.182A>C (p.Gln61Pro)

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.182A>C (p.Gln61Pro)
HGVS:
  • NC_000002.12:g.47403373A>C
  • NG_007110.2:g.5250A>C
  • NM_000251.3:c.182A>CMANE SELECT
  • NM_001258281.1:c.-17A>C
  • NP_000242.1:p.Gln61Pro
  • NP_000242.1:p.Gln61Pro
  • LRG_218t1:c.182A>C
  • LRG_218:g.5250A>C
  • LRG_218p1:p.Gln61Pro
  • NC_000002.11:g.47630512A>C
  • NM_000251.1:c.182A>C
  • NM_000251.2:c.182A>C
Protein change:
Q61P
Links:
dbSNP: rs587779113
NCBI 1000 Genomes Browser:
rs587779113
Molecular consequence:
  • NM_001258281.1:c.-17A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000251.3:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001390042Invitaecriteria provided, single submitter
Uncertain significance
(Aug 31, 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

The mutational spectrum of Lynch syndrome in cyprus.

Loizidou MA, Neophytou I, Papamichael D, Kountourakis P, Vassiliou V, Marcou Y, Kakouri E, Ioannidis G, Philippou C, Spanou E, Tanteles GA, Anastasiadou V, Hadjisavvas A, Kyriacou K.

PLoS One. 2014;9(8):e105501. doi: 10.1371/journal.pone.0105501.

PubMed [citation]
PMID:
25133505
PMCID:
PMC4136928

Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae.

Gammie AE, Erdeniz N, Beaver J, Devlin B, Nanji A, Rose MD.

Genetics. 2007 Oct;177(2):707-21. Epub 2007 Aug 24.

PubMed [citation]
PMID:
17720936
PMCID:
PMC2034637
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001390042.2

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

Description

This sequence change replaces glutamine with proline at codon 61 of the MSH2 protein (p.Gln61Pro). The glutamine residue is weakly conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is present in population databases (rs587779113, ExAC 0.002%). This variant has been observed in individual(s) with clinical features of Lynch syndrome (PMID: 25133505, Invitae). ClinVar contains an entry for this variant (Variation ID: 90798). Experimental studies have shown that this variant does not substantially affect MSH2 protein function (PMID: 17720936, 20176959). 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: Dec 4, 2021

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