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NM_000251.3(MSH2):c.1251_1268delinsAGTT (p.Ile418fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jun 11, 2021)
Last evaluated:
Oct 5, 2020
Accession:
VCV000218031.6
Variation ID:
218031
Description:
18bp indel
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NM_000251.3(MSH2):c.1251_1268delinsAGTT (p.Ile418fs)

Allele ID
214581
Variant type
Indel
Variant length
18 bp
Cytogenetic location
2p21
Genomic location
2: 47429916-47429933 (GRCh38) GRCh38 UCSC
2: 47657055-47657072 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.12:g.47429916_47429933delinsAGTT
NG_007110.2:g.31793_31810delinsAGTT
NM_000251.3:c.1251_1268delinsAGTT MANE Select NP_000242.1:p.Ile418fs
... more HGVS
Protein change
I418fs, I352fs
Other names
-
Canonical SPDI
NC_000002.12:47429915:TATACAGGCTCTGGAAAA:AGTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA279750
dbSNP: rs863225388
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Oct 5, 2020 RCV000491837.2
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Jun 21, 2018 RCV000615809.2
Pathogenic 1 no assertion criteria provided - RCV000202139.2
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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
4521 4606

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 09, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000580484.4
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The c.1251_1268del18insAGTT pathogenic mutation, located in coding exon 7 of the MSH2 gene, results from the deletion of 18 nucleotides and insertion of 4 nucleotides … (more)
Likely pathogenic
(Jun 21, 2018)
criteria provided, single submitter
Method: clinical testing
Lynch syndrome
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000919709.1
Submitted: (Apr 24, 2019)
Evidence details
Comment:
Variant summary: MSH2 c.1251_1268delinsAGTT (p.Ile418ValfsX3) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Pathogenic
(Nov 18, 2016)
criteria provided, single submitter
Method: clinical testing
Lynch syndrome
(Autosomal dominant inheritance)
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000712553.1
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The p.Ile418Valfs variant in MSH2 has not been previously reported in individual s with Lynch Syndrome or in large population studies, though the ability of … (more)
Pathogenic
(Oct 05, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV001736330.1
Submitted: (Jun 11, 2021)
Evidence details
Comment:
This variant affects 18 nucleotides, causing a frameshift, in exon 7 of the MSH2 gene. The variant creates a premature translational stop signal and is … (more)
Pathogenic
(-)
no assertion criteria provided
Method: research
not provided
Allele origin: unknown
Mayo Clinic Laboratories,Mayo Clinic
Accession: SCV000257128.1
Submitted: (Nov 19, 2015)
Evidence details

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 rs863225388...

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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 Dec 02, 2021