NM_000249.4(MLH1):c.1039-33_1039-27del AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 15, 2023
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:: RCV003320983.1

Allele description [Variation Report for NM_000249.4(MLH1):c.1039-33_1039-27del]

NM_000249.4(MLH1):c.1039-33_1039-27del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000249.4(MLH1):c.1039-33_1039-27del

HGVS:

NC_000003.12:g.37025604_37025610del
NG_007109.2:g.37255_37261del
NM_000249.4:c.1039-33_1039-27delMANE SELECT
NM_001167617.3:c.745-33_745-27del
NM_001167618.3:c.316-33_316-27del
NM_001167619.3:c.316-33_316-27del
NM_001258271.2:c.1039-33_1039-27del
NM_001258273.2:c.316-33_316-27del
NM_001258274.3:c.316-33_316-27del
NM_001354615.2:c.316-33_316-27del
NM_001354616.2:c.316-33_316-27del
NM_001354617.2:c.316-33_316-27del
NM_001354618.2:c.316-33_316-27del
NM_001354619.2:c.316-33_316-27del
NM_001354620.2:c.745-33_745-27del
NM_001354621.2:c.16-33_16-27del
NM_001354622.2:c.16-33_16-27del
NM_001354623.2:c.16-33_16-27del
NM_001354624.2:c.-36-33_-36-27del
NM_001354625.2:c.-36-33_-36-27del
NM_001354626.2:c.-36-33_-36-27del
NM_001354627.2:c.-36-33_-36-27del
NM_001354628.2:c.1039-33_1039-27del
NM_001354629.2:c.940-33_940-27del
NM_001354630.2:c.1039-33_1039-27del
LRG_216:g.37255_37261del
NC_000003.11:g.37067095_37067101del
NM_000249.4:c.1039-33_1039-27delATATATTMANE SELECT

Molecular consequence:

NM_000249.4:c.1039-33_1039-27del - intron variant - [Sequence Ontology: SO:0001627]
NM_001167617.3:c.745-33_745-27del - intron variant - [Sequence Ontology: SO:0001627]
NM_001167618.3:c.316-33_316-27del - intron variant - [Sequence Ontology: SO:0001627]
NM_001167619.3:c.316-33_316-27del - intron variant - [Sequence Ontology: SO:0001627]
NM_001258271.2:c.1039-33_1039-27del - intron variant - [Sequence Ontology: SO:0001627]
NM_001258273.2:c.316-33_316-27del - intron variant - [Sequence Ontology: SO:0001627]
NM_001258274.3:c.316-33_316-27del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354615.2:c.316-33_316-27del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354616.2:c.316-33_316-27del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354617.2:c.316-33_316-27del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354618.2:c.316-33_316-27del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354619.2:c.316-33_316-27del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354620.2:c.745-33_745-27del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354621.2:c.16-33_16-27del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354622.2:c.16-33_16-27del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354623.2:c.16-33_16-27del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354624.2:c.-36-33_-36-27del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354625.2:c.-36-33_-36-27del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354626.2:c.-36-33_-36-27del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354627.2:c.-36-33_-36-27del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354628.2:c.1039-33_1039-27del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354629.2:c.940-33_940-27del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354630.2:c.1039-33_1039-27del - 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
SCV004024905	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Aug 15, 2023)	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

SCV004024905

Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Aug 15, 2023)

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 Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV004024905.1

#	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: Aug 19, 2023

ClinVar

Relating variation to medicine