NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTA AND Hereditary cancer-predisposing syndrome

Germline classification:: Likely benign (1 submission)
Last evaluated:: May 13, 2021
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:: RCV002256105.1

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)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002528614	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Likely benign (May 13, 2021)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002528614

Sema4, Sema4

criteria provided, single submitter

(Sema4 Curation Guidelines)

Likely benign
(May 13, 2021)

germline

curation

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation

Details of each submission

From Sema4, Sema4, SCV002528614.1

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

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

Last Updated: Sep 29, 2024

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