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NM_000249.4(MLH1):c.911A>T (p.Asp304Val)

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Interpretation:
Likely pathogenic​

Review status:
reviewed by expert panel
Submissions:
2 (Most recent: Jul 20, 2020)
Last evaluated:
Jun 21, 2019
Accession:
VCV000090439.3
Variation ID:
90439
Description:
single nucleotide variant
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NM_000249.4(MLH1):c.911A>T (p.Asp304Val)

Allele ID
95913
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p22.2
Genomic location
3: 37020336 (GRCh38) GRCh38 UCSC
3: 37061827 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_216:g.31987A>T
LRG_216t1:c.911A>T LRG_216p1:p.Asp304Val
NM_000249.3:c.911A>T NP_000240.1:p.Asp304Val missense
... more HGVS
Protein change
D304V, D63V, D271V, D206V
Other names
-
Canonical SPDI
NC_000003.12:37020335:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA013044
UniProtKB: P40692#VAR_043405
dbSNP: rs63750993
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 reviewed by expert panel Jun 21, 2019 RCV000075932.3
Lynch-like syndrome
Likely pathogenic 1 no assertion criteria provided Jul 1, 2019 RCV001250011.1
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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
3503 3539

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jun 21, 2019)
reviewed by expert panel
Method: curation
Lynch syndrome
Allele origin: germline
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
Accession: SCV000106949.3
Submitted: (Jun 21, 2019)
Evidence details
Other databases
http://www.insight-database.org/…
Comment:
Multifactorial likelihood analysis posterior probability >0.99
Likely pathogenic
(Jul 01, 2019)
no assertion criteria provided
Method: clinical testing
Lynch-like syndrome
Allele origin: somatic
Constitutional Genetics Lab,Leon Berard Cancer Center
Accession: SCV001423912.1
Submitted: (Jul 20, 2020)
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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Title Author Journal Year Link
http://www.insight-database.org/classifications/?gene=MLH1&variant=c.911A%3ET - - - -

Text-mined citations for rs63750993...

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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 Oct 24, 2021