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NM_000249.3(MLH1):c.41C>T (p.Thr14Ile)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 29, 2019)
Last evaluated:
Jan 18, 2018
Accession:
VCV000405381.2
Variation ID:
405381
Description:
single nucleotide variant
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NM_000249.3(MLH1):c.41C>T (p.Thr14Ile)

Allele ID
393832
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p22.2
Genomic location
3: 36993588 (GRCh38) GRCh38 UCSC
3: 37035079 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.37035079C>T
NC_000003.12:g.36993588C>T
NM_000249.3:c.41C>T NP_000240.1:p.Thr14Ile missense
... more HGVS
Protein change
T14I
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA035624
dbSNP: rs774363593
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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 Oct 21, 2017 RCV000456258.2
Uncertain significance 1 criteria provided, single submitter Mar 10, 2017 RCV000478685.1
Uncertain significance 1 criteria provided, single submitter Jan 18, 2018 RCV000571643.2
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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
Uncertain significance
(Oct 21, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary nonpolyposis colon cancer
Allele origin: germline
Invitae
Accession: SCV000543527.3
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This sequence change replaces threonine with isoleucine at codon 14 of the MLH1 protein (p.Thr14Ile). The threonine residue is moderately conserved and there is a ... (more)
Uncertain significance
(Jan 18, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000669593.2
Submitted: (Jul 30, 2018)
Evidence details
Publications
PubMed (1)
Comment:
Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)
Uncertain significance
(Mar 10, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000570081.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This variant is denoted MLH1 c.41C>T at the cDNA level, p.Thr14Ile (T14I) at the protein level, and results in the change of a Threonine to ... (more)

Citations for this variant

Title Author Journal Year Link
Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome. Hansen MF Clinical genetics 2017 PMID: 28195393

Record last updated Oct 27, 2019