NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTA AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 26, 2016
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:: RCV000501382.1

Allele description [Variation Report for NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTA]

NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTA

Gene:

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

Variant type:

Insertion

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTA

HGVS:

NC_000003.12:g.37025629_37025630insTTTTTA
NG_007109.2:g.37280_37281insTTTTTA
NM_000249.4:c.1039-8_1039-7insTTTTTAMANE SELECT
NM_001167617.3:c.745-8_745-7insTTTTTA
NM_001167618.3:c.316-8_316-7insTTTTTA
NM_001167619.3:c.316-8_316-7insTTTTTA
NM_001258271.2:c.1039-8_1039-7insTTTTTA
NM_001258273.2:c.316-8_316-7insTTTTTA
NM_001258274.3:c.316-8_316-7insTTTTTA
NM_001354615.2:c.316-8_316-7insTTTTTA
NM_001354616.2:c.316-8_316-7insTTTTTA
NM_001354617.2:c.316-8_316-7insTTTTTA
NM_001354618.2:c.316-8_316-7insTTTTTA
NM_001354619.2:c.316-8_316-7insTTTTTA
NM_001354620.2:c.745-8_745-7insTTTTTA
NM_001354621.2:c.16-8_16-7insTTTTTA
NM_001354622.2:c.16-8_16-7insTTTTTA
NM_001354623.2:c.16-8_16-7insTTTTTA
NM_001354624.2:c.-36-8_-36-7insTTTTTA
NM_001354625.2:c.-36-8_-36-7insTTTTTA
NM_001354626.2:c.-36-8_-36-7insTTTTTA
NM_001354627.2:c.-36-8_-36-7insTTTTTA
NM_001354628.2:c.1039-8_1039-7insTTTTTA
NM_001354629.2:c.940-8_940-7insTTTTTA
NM_001354630.2:c.1039-8_1039-7insTTTTTA
LRG_216t1:c.1039-8_1039-7insTTTTTA
LRG_216:g.37280_37281insTTTTTA
NC_000003.11:g.37067120_37067121insTTTTTA
NM_000249.3:c.1039-8_1039-7insTTTTTA

Links:

dbSNP: rs535965616

NCBI 1000 Genomes Browser:

rs535965616

Molecular consequence:

NM_000249.4:c.1039-8_1039-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001167617.3:c.745-8_745-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001167618.3:c.316-8_316-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001167619.3:c.316-8_316-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001258271.2:c.1039-8_1039-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001258273.2:c.316-8_316-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001258274.3:c.316-8_316-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354615.2:c.316-8_316-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354616.2:c.316-8_316-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354617.2:c.316-8_316-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354618.2:c.316-8_316-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354619.2:c.316-8_316-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354620.2:c.745-8_745-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354621.2:c.16-8_16-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354622.2:c.16-8_16-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354623.2:c.16-8_16-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354624.2:c.-36-8_-36-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354625.2:c.-36-8_-36-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354626.2:c.-36-8_-36-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354627.2:c.-36-8_-36-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354628.2:c.1039-8_1039-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354629.2:c.940-8_940-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354630.2:c.1039-8_1039-7insTTTTTA - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000592394	Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Jan 26, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000592394

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

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Jan 26, 2016)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000592394.1

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

#	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: Sep 29, 2024

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