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NM_000249.4(MLH1):c.860del (p.Asn287fs)

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Interpretation:
Pathogenic​

Review status:
reviewed by expert panel
Submissions:
2 (Most recent: Apr 24, 2019)
Last evaluated:
Sep 5, 2013
Accession:
VCV000090398.2
Variation ID:
90398
Description:
1bp deletion
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NM_000249.4(MLH1):c.860del (p.Asn287fs)

Allele ID
95872
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
3p22.2
Genomic location
3: 37017571 (GRCh38) GRCh38 UCSC
3: 37059062 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000249.3:c.860delA
LRG_216:g.29226del
NC_000003.11:g.37059066del
... more HGVS
Protein change
N254fs, N287fs, N189fs, N46fs
Other names
-
Canonical SPDI
NC_000003.12:37017570:AAAAA:AAAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA012687
dbSNP: rs63750034
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 reviewed by expert panel Sep 5, 2013 RCV000075891.3
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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
Pathogenic
(Sep 05, 2013)
reviewed by expert panel
Method: research
Lynch Syndrome
Allele origin: germline
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
Accession: SCV000106907.2
Submitted: (Dec 18, 2013)
Comment:
Classified with v1.9 guidelines: https://docs.google.com/file/d/0B3JL6rP6JzhoN2EydHRVMEI1UGs
Evidence details
Comment:
Coding sequence variation resulting in a stop codon
Likely pathogenic
(Jun 05, 2018)
criteria provided, single submitter
Method: clinical testing
Lynch syndrome
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000917652.1
Submitted: (Apr 24, 2019)
Evidence details
Comment:
Variant summary: MLH1 c.860delA (p.Asn287ThrfsX10) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)

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/index.html?gene=MLH1&variant=c.860del - - - -

Text-mined citations for rs63750034...

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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 Nov 27, 2021