Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000249.4(MLH1):c.885-21TC[2]

Help
Interpretation:
Likely benign​

Review status:
reviewed by expert panel
Submissions:
10 (Most recent: Aug 19, 2021)
Last evaluated:
Oct 18, 2018
Accession:
VCV000090418.6
Variation ID:
90418
Description:
2bp microsatellite
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 reviewed by expert panel Oct 18, 2018 RCV000075911.3
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Oct 22, 2015 RCV000128946.7
Benign 3 criteria provided, multiple submitters, no conflicts Feb 7, 2017 RCV000153505.3
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations May 28, 2019 RCV000659869.2
Likely benign 1 no assertion criteria provided Jun 30, 2018 RCV001570874.1
Help
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
3478 3513

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Oct 18, 2018)
reviewed by expert panel
Method: curation
Lynch syndrome
Allele origin: germline
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
Accession: SCV000106932.3
Submitted: (Feb 21, 2019)
Evidence details
Other databases
http://www.insight-database.org/…
Comment:
Intronic deletion with no effect on splicing
Benign
(May 08, 2014)
criteria provided, single submitter
Method: clinical testing
Neoplastic Syndromes, Hereditary
Allele origin: germline
GeneDx
Accession: SCV000211136.2
Submitted: (Feb 05, 2015)
Evidence details
Comment:
The variant is found in BR-OV-HEREDIC,HEREDICANCER panel(s).
Benign
(Jul 16, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000689928.1
Submitted: (Dec 21, 2017)
Evidence details
Uncertain significance
(Nov 01, 2016)
criteria provided, single submitter
Method: clinical testing
Lynch syndrome II
Allele origin: germline
Center for Human Genetics, Inc,Center for Human Genetics, Inc
Accession: SCV000781753.1
Submitted: (Dec 20, 2017)
Evidence details
Benign
(Feb 07, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000805984.1
Submitted: (Jan 29, 2018)
Evidence details
Likely benign
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Lynch syndrome II
Allele origin: unknown
Mendelics
Accession: SCV001136389.1
Submitted: (Oct 22, 2019)
Evidence details
Likely benign
(Oct 22, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000172821.4
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
Co-occurence with mutation in same gene (phase unknown);Intronic alteration with no splicing impact by rt-pcr analysis or other splicing assay;Rarity in general population databases (dbsnp, … (more)
Benign
(Mar 16, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Department of Pathology and Laboratory Medicine,Sinai Health System
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000592386.1
Submitted: (Apr 19, 2017)
Evidence details
Publications
PubMed (1)
Benign
(Feb 24, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000203025.7
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Jun 30, 2018)
no assertion criteria provided
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001795240.1
Submitted: (Aug 19, 2021)
Evidence details

Functional evidence

Help
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

Help
Title Author Journal Year Link
Mutational analysis of MLH1 and MSH2 in 25 prospectively-acquired RER+ endometrial cancers. Kowalski LD Genes, chromosomes & cancer 1997 PMID: 9071575
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=MLH1 - - - -
http://www.insight-database.org/classifications/?gene=MLH1&variant=c.885-16_885-15del - - - -

Text-mined citations for rs267607804...

Help
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 Aug 21, 2021