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NM_000251.3(MSH2):c.1224T>G (p.Tyr408Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Nov 30, 2020)
Last evaluated:
Mar 27, 2019
Accession:
VCV000486881.4
Variation ID:
486881
Description:
single nucleotide variant
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NM_000251.3(MSH2):c.1224T>G (p.Tyr408Ter)

Allele ID
472813
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p21
Genomic location
2: 47429889 (GRCh38) GRCh38 UCSC
2: 47657028 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.47657028T>G
NC_000002.12:g.47429889T>G
NG_007110.2:g.31766T>G
... more HGVS
Protein change
Y408*, Y342*
Other names
-
Canonical SPDI
NC_000002.12:47429888:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA346734084
dbSNP: rs63750132
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Mar 27, 2019 RCV000569136.1
Likely pathogenic 1 criteria provided, single submitter Feb 20, 2018 RCV000780440.1
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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
4521 4606

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 20, 2018)
criteria provided, single submitter
Method: clinical testing
Lynch syndrome
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000917689.1
Submitted: (Apr 24, 2019)
Evidence details
Comment:
Variant summary: MSH2 c.1224T>G (p.Tyr408X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Pathogenic
(Mar 27, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000676100.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.Y408* pathogenic mutation (also known as c.1224T>G), located in coding exon 7 of the MSH2 gene, results from a T to G substitution at … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs63750132...

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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 Nov 27, 2021