NM_000251.3(MSH2):c.118G>A (p.Gly40Ser) AND Hereditary cancer-predisposing syndrome

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Jun 12, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000491838.4

Allele description [Variation Report for NM_000251.3(MSH2):c.118G>A (p.Gly40Ser)]

NM_000251.3(MSH2):c.118G>A (p.Gly40Ser)

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.118G>A (p.Gly40Ser)
HGVS:
  • NC_000002.12:g.47403309G>A
  • NG_007110.2:g.5186G>A
  • NM_000251.2:c.118G>A
  • NM_000251.3:c.118G>AMANE SELECT
  • NM_001258281.1:c.-30-51G>A
  • NP_000242.1:p.Gly40Ser
  • NP_000242.1:p.Gly40Ser
  • LRG_218t1:c.118G>A
  • LRG_218:g.5186G>A
  • LRG_218p1:p.Gly40Ser
  • NC_000002.11:g.47630448G>A
  • NM_000251.1:c.118G>A
  • P43246:p.Gly40Ser
Protein change:
G40S
Links:
UniProtKB: P43246#VAR_043739; dbSNP: rs63751260
NCBI 1000 Genomes Browser:
rs63751260
Molecular consequence:
  • NM_001258281.1:c.-30-51G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000251.2:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000251.3:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000580530Ambry Geneticscriteria provided, single submitter
Likely benign
(Oct 3, 2018)
germlineclinical testing

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

Citation Link,

SCV000684914Color Health, Inccriteria provided, single submitter
Uncertain significance
(Jun 12, 2019)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Oncogenic pathway of sporadic colorectal cancer with novel germline missense mutations in the hMSH2 gene.

Yamada K, Zhong X, Kanazawa S, Koike J, Tsujita K, Hemmi H.

Oncol Rep. 2003 Jul-Aug;10(4):859-66.

PubMed [citation]
PMID:
12792735

Total colectomy for multiple metachronous colon cancers in a patient with Lynch syndrome.

Kochi M, Shimomura M, Hinoi T, Niitsu H, Yano T, Mukai S, Sawada H, Miguchi M, Saito Y, Adachi T, Ishizaki Y, Egi H, Ohdan H.

Surg Case Rep. 2015 Dec;1(1):78. doi: 10.1186/s40792-015-0081-x.

PubMed [citation]
PMID:
26380806
PMCID:
PMC4564456
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV000580530.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

In silico models in agreement (benign);Other data supporting benign classification

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

From Color Health, Inc, SCV000684914.3

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

Last Updated: Oct 30, 2021

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