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NM_000251.2(MSH2):c.154C>A (p.Leu52Met)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 2, 2018)
Last evaluated:
Aug 23, 2017
Accession:
VCV000525631.1
Variation ID:
525631
Description:
single nucleotide variant
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NM_000251.2(MSH2):c.154C>A (p.Leu52Met)

Allele ID
518269
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p21
Genomic location
2: 47403345 (GRCh38) GRCh38 UCSC
2: 47630484 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.47630484C>A
NC_000002.12:g.47403345C>A
NM_000251.2:c.154C>A NP_000242.1:p.Leu52Met missense
... more HGVS
Protein change
L52M
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA346728961
dbSNP: rs786202335
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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 Aug 23, 2017 RCV000629756.1
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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
(Aug 23, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary nonpolyposis colon cancer
Allele origin: germline
Invitae
Accession: SCV000750712.1
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This sequence change replaces leucine with methionine at codon 52 of the MSH2 protein (p.Leu52Met). The leucine 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