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NM_000251.2(MSH2):c.849T>C (p.Asp283=)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 24, 2019)
Last evaluated:
Aug 29, 2019
Accession:
VCV000231760.2
Variation ID:
231760
Description:
single nucleotide variant
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NM_000251.2(MSH2):c.849T>C (p.Asp283=)

Allele ID
232553
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p21
Genomic location
2: 47414325 (GRCh38) GRCh38 UCSC
2: 47641464 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.47641464T>C
NC_000002.12:g.47414325T>C
NM_001258281.1:c.651T>C NP_001245210.1:p.Asp217= synonymous
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10577956
dbSNP: rs876659344
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jan 6, 2016 RCV000218659.1
Likely benign 1 criteria provided, single submitter Aug 29, 2019 RCV000586313.2
Likely benign 1 criteria provided, single submitter Nov 3, 2017 RCV000630367.1
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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
3344 3401

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Nov 03, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary nonpolyposis colon cancer
Allele origin: germline
Invitae
Accession: SCV000751323.1
Submitted: (Apr 02, 2018)
Evidence details
Likely benign
(Jan 06, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000275706.5
Submitted: (Jul 30, 2018)
Evidence details
Likely benign
(Aug 29, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Integrated Genetics/Laboratory Corporation of America
Accession: SCV000696290.2
Submitted: (Sep 24, 2019)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Nov 07, 2019