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NM_000249.4(MLH1):c.588+1del

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Interpretation:
Likely pathogenic​

Review status:
reviewed by expert panel
Submissions:
2 (Most recent: Apr 20, 2020)
Last evaluated:
Jun 21, 2019
Accession:
VCV000090281.3
Variation ID:
90281
Description:
1bp deletion
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NM_000249.4(MLH1):c.588+1del

Allele ID
95755
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
3p22.2
Genomic location
3: 37011863 (GRCh38) GRCh38 UCSC
3: 37053354 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_216:g.23514del
LRG_216t1:c.588+1del
NM_000249.3:c.588+1delG splice donor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:37011862:G:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA011097
dbSNP: rs267607773
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 RCV000075770.3
Likely pathogenic 1 criteria provided, single submitter Nov 21, 2019 RCV001253171.1
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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: SCV000106778.3
Submitted: (Jun 21, 2019)
Evidence details
Other databases
http://www.insight-database.org/…
Comment:
Interrupts canonical donor splice site
Likely pathogenic
(Nov 21, 2019)
criteria provided, single submitter
Method: clinical testing
Lynch syndrome II
Allele origin: germline
Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV001428751.1
Submitted: (Apr 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.588+1delG - - - -

Text-mined citations for rs267607773...

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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