NM_000249.4(MLH1):c.*32CTT[1] AND not provided

Germline classification:: Benign (4 submissions)
Last evaluated:: Mar 3, 2015
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000034536.7

Allele description [Variation Report for NM_000249.4(MLH1):c.*32CTT[1]]

NM_000249.4(MLH1):c.*32CTT[1]

Gene:

MLH1:mutL homolog 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000249.4(MLH1):c.*32CTT[1]

HGVS:

NC_000003.12:g.37050685CTT[1]
NG_007109.2:g.62336CTT[1]
NG_053016.1:g.131130GAA[1]
NM_000249.4:c.*32CTT[1]MANE SELECT
NM_001167617.3:c.*32CTT[1]
NM_001167618.3:c.*32CTT[1]
NM_001167619.3:c.*32CTT[1]
NM_001258271.2:c.*32CTT[1]
NM_001258273.2:c.*32CTT[1]
NM_001258274.3:c.*32CTT[1]
NM_001354615.2:c.*32CTT[1]
NM_001354616.2:c.*32CTT[1]
NM_001354617.2:c.*32CTT[1]
NM_001354618.2:c.*32CTT[1]
NM_001354619.2:c.*32CTT[1]
NM_001354620.2:c.*32CTT[1]
NM_001354621.2:c.*32CTT[1]
NM_001354622.2:c.*32CTT[1]
NM_001354623.2:c.*32CTT[1]
NM_001354624.2:c.*32CTT[1]
NM_001354625.2:c.*32CTT[1]
NM_001354626.2:c.*32CTT[1]
NM_001354627.2:c.*32CTT[1]
NM_001354628.2:c.*32CTT[1]
NM_001354629.2:c.*32CTT[1]
NM_001354630.2:c.*32CTT[1]
LRG_216:g.62336CTT[1]
NC_000003.11:g.37092176CTT[1]
NM_000249.3:c.*35_*37delCTT
NM_000249.4:c.*35_*37delCTTMANE SELECT
p.Leu263del

Links:

dbSNP: rs193922366

NCBI 1000 Genomes Browser:

rs193922366

Molecular consequence:

NM_000249.4:c.*32CTT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001167617.3:c.*32CTT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001167618.3:c.*32CTT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001167619.3:c.*32CTT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001258271.2:c.*32CTT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001258273.2:c.*32CTT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001258274.3:c.*32CTT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001354615.2:c.*32CTT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001354616.2:c.*32CTT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001354617.2:c.*32CTT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001354618.2:c.*32CTT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001354619.2:c.*32CTT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001354620.2:c.*32CTT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001354621.2:c.*32CTT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001354622.2:c.*32CTT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001354623.2:c.*32CTT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001354624.2:c.*32CTT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001354625.2:c.*32CTT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001354626.2:c.*32CTT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001354627.2:c.*32CTT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001354628.2:c.*32CTT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001354629.2:c.*32CTT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001354630.2:c.*32CTT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000043332	Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq	no assertion criteria provided	no known pathogenicity (Jul 13, 2012)	germline	research	PubMed (1) [See all records that cite this PMID]
SCV001550786	Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR) See additional submitters Franklin by Genoox	no assertion criteria provided	Uncertain significance	unknown	clinical testing
SCV001884477	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Mar 3, 2015)	germline	clinical testing	Citation Link,
SCV001972481	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	yes	0	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	no	19	not provided	not provided	571	not provided	research

Citations

PubMed

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG.

Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14.

PubMed [citation]

PMID:: 22703879
PMCID:: PMC3397257

Details of each submission

From Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq, SCV000043332.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	19	not provided	not provided	research	PubMed (1)

Description

The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See PubMed ID:22703879 for details.

Description

Converted during submission to Benign.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	571	not provided	discovery		19	not provided	not provided	not provided

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001550786.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	0	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		0	not provided	not provided	not provided

From GeneDx, SCV001884477.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is associated with the following publications: (PMID: 24728327)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001972481.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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