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NM_000251.3(MSH2):c.860dup (p.Gln288fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 19, 2020
Accession:
VCV000036579.5
Variation ID:
36579
Description:
1bp duplication
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NM_000251.3(MSH2):c.860dup (p.Gln288fs)

Allele ID
45241
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
2p21
Genomic location
2: 47414334-47414335 (GRCh38) GRCh38 UCSC
2: 47641473-47641474 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000251.2:c.860dupG frameshift
NC_000002.11:g.47641475dup
NC_000002.12:g.47414336dup
... more HGVS
Protein change
Q222fs, Q288fs
Other names
-
Canonical SPDI
NC_000002.12:47414334:GG:GGG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA186235
dbSNP: rs193922375
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Aug 18, 2011 RCV000030255.3
Pathogenic 1 criteria provided, single submitter Jul 21, 2017 RCV000162420.3
Pathogenic 1 criteria provided, single submitter Jul 19, 2020 RCV001034633.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MSH2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
4518 4603

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
Method: curation, clinical testing
Hereditary non-polyposis colon cancer
(autosomal unknown)
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000052922.1
Submitted: (Aug 18, 2011)
Evidence details
Comment:
Converted during submission to Likely pathogenic.
Pathogenic
(Jul 21, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000212761.6
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (2)
Comment:
The c.860dupG pathogenic mutation, located in coding exon 5 of the MSH2 gene, results from a duplication of G at nucleotide position 860, causing a … (more)
Pathogenic
(Jul 19, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary nonpolyposis colorectal neoplasms
Allele origin: germline
Invitae
Accession: SCV000284191.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Gln288Thrfs*3) in the MSH2 gene. It is expected to result in an absent or disrupted protein … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. Espenschied CR Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 PMID: 28514183
Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome. Guindalini RS Gastroenterology 2015 PMID: 26248088
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Thompson BA Nature genetics 2014 PMID: 24362816
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. Mangold E International journal of cancer 2005 PMID: 15849733

Text-mined citations for rs193922375...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021