NM_020774.4(MIB1):c.2039del (p.Gln680fs) AND Left ventricular noncompaction 7

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 9, 2019
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:: RCV001809234.1

Allele description [Variation Report for NM_020774.4(MIB1):c.2039del (p.Gln680fs)]

NM_020774.4(MIB1):c.2039del (p.Gln680fs)

Gene:

MIB1:MIB E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

18q11.2

Genomic location:

Preferred name:

NM_020774.4(MIB1):c.2039del (p.Gln680fs)

HGVS:

NC_000018.10:g.21843207del
NG_033272.2:g.143251del
NM_020774.4:c.2039delMANE SELECT
NP_065825.1:p.Gln680fs
LRG_759t1:c.2039del
LRG_759:g.143251del
NC_000018.9:g.19423168del
NM_020774.3:c.2039del

Protein change:

Q680fs

Links:

dbSNP: rs757527279

NCBI 1000 Genomes Browser:

rs757527279

Molecular consequence:

NM_020774.4:c.2039del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Left ventricular noncompaction 7 (LVNC7)
Identifiers:: MONDO: MONDO:0014042; MedGen: C3554496; Orphanet: 54260; OMIM: 615092

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002059714	Centogene AG - the Rare Disease Company	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Nov 9, 2019)	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

SCV002059714

Centogene AG - the Rare Disease Company

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Nov 9, 2019)

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	no	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 Centogene AG - the Rare Disease Company, SCV002059714.1

#	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	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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