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NM_000251.2(MSH2):c.2387C>G (p.Thr796Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Sep 25, 2018
Accession:
VCV000645223.1
Variation ID:
645223
Description:
single nucleotide variant
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NM_000251.2(MSH2):c.2387C>G (p.Thr796Ser)

Allele ID
630175
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p21
Genomic location
2: 47478448 (GRCh38) GRCh38 UCSC
2: 47705587 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.47705587C>G
NC_000002.12:g.47478448C>G
NM_000251.2:c.2387C>G NP_000242.1:p.Thr796Ser missense
... more HGVS
Protein change
T730S
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
-
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Sep 25, 2018 RCV000799266.1
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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
Uncertain significance
(Sep 25, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary nonpolyposis colon cancer
Allele origin: germline
Invitae
Accession: SCV000938920.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces threonine with serine at codon 796 of the MSH2 protein (p.Thr796Ser). The threonine residue is moderately conserved and there is a ... (more)

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 Oct 27, 2019