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NM_000249.3(MLH1):c.1003C>T (p.Leu335=)

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Interpretation:
Likely benign​

Review status:
reviewed by expert panel
Submissions:
3 (Most recent: Mar 14, 2019)
Last evaluated:
Sep 5, 2013
Accession:
VCV000089601.2
Variation ID:
89601
Description:
single nucleotide variant
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NM_000249.3(MLH1):c.1003C>T (p.Leu335=)

Allele ID
95075
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p22.2
Genomic location
3: 37020428 (GRCh38) GRCh38 UCSC
3: 37061919 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.37061919C>T
NC_000003.12:g.37020428C>T
NM_000249.3:c.1003C>T NP_000240.1:p.Leu335= synonymous
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA004026
dbSNP: rs267607812
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 reviewed by expert panel Sep 5, 2013 RCV000075070.2
Likely benign 1 criteria provided, single submitter May 9, 2017 RCV000580632.1
Likely benign 1 criteria provided, single submitter Dec 8, 2018 RCV000972046.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MLH1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
2583 2612

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Sep 05, 2013)
reviewed by expert panel
Method: research
Lynch Syndrome
Allele origin: germline
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
Accession: SCV000106059.2
Submitted: (Dec 18, 2013)
Comment:
Classified with v1.9 guidelines: https://docs.google.com/file/d/0B3JL6rP6JzhoN2EydHRVMEI1UGs
Evidence details
Comment:
Synonymous substitution with no splicing aberration, tested using NMD inhibitors
Likely benign
(Dec 08, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001119736.1
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(May 09, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color
Accession: SCV000684705.1
Submitted: (Oct 26, 2017)
Evidence details

Citations for this variant

Title Author Journal Year Link
http://www.insight-database.org/classifications/index.html?gene=MLH1&variant=c.1003C%3ET - - - -

Record last updated Dec 17, 2019