NM_000249.4(MLH1):c.1039-31_1039-29delinsTTTT AND Hereditary cancer-predisposing syndrome

Germline classification:: Likely benign (1 submission)
Last evaluated:: Nov 5, 2018
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:: RCV001175868.2

Allele description [Variation Report for NM_000249.4(MLH1):c.1039-31_1039-29delinsTTTT]

NM_000249.4(MLH1):c.1039-31_1039-29delinsTTTT

Gene:

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

Variant type:

Indel

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000249.4(MLH1):c.1039-31_1039-29delinsTTTT

HGVS:

NC_000003.12:g.37025606_37025608delATAinsTTTT
NC_000003.12:g.37025606_37025608delinsTTTT
NG_007109.2:g.37257_37259delinsTTTT
NM_000249.4:c.1039-31_1039-29delinsTTTTMANE SELECT
NM_001167617.3:c.745-31_745-29delinsTTTT
NM_001167618.3:c.316-31_316-29delinsTTTT
NM_001167619.3:c.316-31_316-29delinsTTTT
NM_001258271.2:c.1039-31_1039-29delinsTTTT
NM_001258273.2:c.316-31_316-29delinsTTTT
NM_001258274.3:c.316-31_316-29delinsTTTT
NM_001354615.2:c.316-31_316-29delinsTTTT
NM_001354616.2:c.316-31_316-29delinsTTTT
NM_001354617.2:c.316-31_316-29delinsTTTT
NM_001354618.2:c.316-31_316-29delinsTTTT
NM_001354619.2:c.316-31_316-29delinsTTTT
NM_001354620.2:c.745-31_745-29delinsTTTT
NM_001354621.2:c.16-31_16-29delinsTTTT
NM_001354622.2:c.16-31_16-29delinsTTTT
NM_001354623.2:c.16-31_16-29delinsTTTT
NM_001354624.2:c.-36-31_-36-29delinsTTTT
NM_001354625.2:c.-36-31_-36-29delinsTTTT
NM_001354626.2:c.-36-31_-36-29delinsTTTT
NM_001354627.2:c.-36-31_-36-29delinsTTTT
NM_001354628.2:c.1039-31_1039-29delinsTTTT
NM_001354629.2:c.940-31_940-29delinsTTTT
NM_001354630.2:c.1039-31_1039-29delinsTTTT
LRG_216t1:c.1039-31_1039-29delinsTTTT
LRG_216:g.37257_37259delinsTTTT
NC_000003.11:g.37067097_37067099delinsTTTT
NM_000249.3:c.1039-31_1039-29delinsTTTT

Links:

dbSNP: rs2083369312

NCBI 1000 Genomes Browser:

rs2083369312

Molecular consequence:

NM_000249.4:c.1039-31_1039-29delinsTTTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001167617.3:c.745-31_745-29delinsTTTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001167618.3:c.316-31_316-29delinsTTTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001167619.3:c.316-31_316-29delinsTTTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001258271.2:c.1039-31_1039-29delinsTTTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001258273.2:c.316-31_316-29delinsTTTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001258274.3:c.316-31_316-29delinsTTTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001354615.2:c.316-31_316-29delinsTTTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001354616.2:c.316-31_316-29delinsTTTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001354617.2:c.316-31_316-29delinsTTTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001354618.2:c.316-31_316-29delinsTTTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001354619.2:c.316-31_316-29delinsTTTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001354620.2:c.745-31_745-29delinsTTTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001354621.2:c.16-31_16-29delinsTTTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001354622.2:c.16-31_16-29delinsTTTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001354623.2:c.16-31_16-29delinsTTTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001354624.2:c.-36-31_-36-29delinsTTTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001354625.2:c.-36-31_-36-29delinsTTTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001354626.2:c.-36-31_-36-29delinsTTTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001354627.2:c.-36-31_-36-29delinsTTTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001354628.2:c.1039-31_1039-29delinsTTTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001354629.2:c.940-31_940-29delinsTTTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001354630.2:c.1039-31_1039-29delinsTTTT - 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

Recent activity

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Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA
Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA
gi|1677500679|ref|NM_004630.4|

Nucleotide
MIR194-2 microRNA 194-2 [Homo sapiens]
MIR194-2 microRNA 194-2 [Homo sapiens]
Gene ID:406970

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001339653	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Nov 5, 2018)	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

SCV001339653

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Nov 5, 2018)

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	unknown	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 Color Diagnostics, LLC DBA Color Health, SCV001339653.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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