NM_000251.3(MSH2):c.766G>A (p.Ala256Thr) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 2, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000160627.6

Allele description [Variation Report for NM_000251.3(MSH2):c.766G>A (p.Ala256Thr)]

NM_000251.3(MSH2):c.766G>A (p.Ala256Thr)

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.766G>A (p.Ala256Thr)
Other names:
p.A256T:GCT>ACT
HGVS:
  • NC_000002.12:g.47412534G>A
  • NG_007110.2:g.14411G>A
  • NM_000251.3:c.766G>AMANE SELECT
  • NM_001258281.1:c.568G>A
  • NP_000242.1:p.Ala256Thr
  • NP_000242.1:p.Ala256Thr
  • NP_001245210.1:p.Ala190Thr
  • LRG_218t1:c.766G>A
  • LRG_218:g.14411G>A
  • LRG_218p1:p.Ala256Thr
  • NC_000002.11:g.47639673G>A
  • NM_000251.1:c.766G>A
  • NM_000251.2:c.766G>A
Protein change:
A190T
Links:
dbSNP: rs377403073
NCBI 1000 Genomes Browser:
rs377403073
Molecular consequence:
  • NM_000251.3:c.766G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258281.1:c.568G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000211226GeneDxcriteria provided, single submitter
Uncertain significance
(Jun 2, 2020)
germlineclinical testing

Citation Link,

SCV000888231Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Uncertain significance
(Jan 30, 2019)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer.

Pal T, Akbari MR, Sun P, Lee JH, Fulp J, Thompson Z, Coppola D, Nicosia S, Sellers TA, McLaughlin J, Risch HA, Rosen B, Shaw P, Schildkraut J, Narod SA.

Br J Cancer. 2012 Nov 6;107(10):1783-90. doi: 10.1038/bjc.2012.452. Epub 2012 Oct 9.

PubMed [citation]
PMID:
23047549
PMCID:
PMC3493867

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From GeneDx, SCV000211226.12

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

Description

In silico analysis supports that this missense variant does not alter protein structure/function; Observed in individuals with ovarian and renal cancer (Pal 2012, Yehia 2018); This variant is associated with the following publications: (PMID: 23047549, 29684080)

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000888231.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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