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NM_000249.4(MLH1):c.1032del (p.Phe344fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 24, 2019
Accession:
VCV000492681.3
Variation ID:
492681
Description:
1bp deletion
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NM_000249.4(MLH1):c.1032del (p.Phe344fs)

Allele ID
485602
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
3p22.2
Genomic location
3: 37020457 (GRCh38) GRCh38 UCSC
3: 37061948 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000249.3:c.1032delC frameshift
NC_000003.11:g.37061948del
NC_000003.12:g.37020457del
... more HGVS
Protein change
F344fs, F3fs, F103fs, F246fs, F311fs
Other names
-
Canonical SPDI
NC_000003.12:37020456:C:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658683308
dbSNP: rs1553648225
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 criteria provided, single submitter May 10, 2017 RCV000588814.1
Pathogenic 1 criteria provided, single submitter Sep 24, 2019 RCV001206251.1
Likely pathogenic 1 no assertion criteria provided - RCV000583028.1
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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
(May 10, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary nonpolyposis colon cancer
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000696091.1
Submitted: (Jan 25, 2018)
Evidence details
Comment:
Variant summary: The MLH1 c.1032delC (p.Phe344Leufs) variant results in a premature termination codon, predicted to cause a truncated or absent MLH1 protein due to nonsense … (more)
Pathogenic
(Sep 24, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary nonpolyposis colorectal neoplasms
Allele origin: germline
Invitae
Accession: SCV001377549.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Phe344Leufs*23) in the MLH1 gene. It is expected to result in an absent or disrupted protein … (more)
Likely pathogenic
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000691853.1
Submitted: (Oct 31, 2017)
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
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Thompson BA Nature genetics 2014 PMID: 24362816
Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. Casey G JAMA 2005 PMID: 15713769

Text-mined citations for rs1553648225...

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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 30, 2021