NM_006734.4(HIVEP2):c.2367del (p.Gly791fs) AND Intellectual disability, autosomal dominant 43

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 3, 2022
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:: RCV002795914.2

Allele description [Variation Report for NM_006734.4(HIVEP2):c.2367del (p.Gly791fs)]

NM_006734.4(HIVEP2):c.2367del (p.Gly791fs)

Gene:

HIVEP2:HIVEP zinc finger 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6q24.2

Genomic location:

Preferred name:

NM_006734.4(HIVEP2):c.2367del (p.Gly791fs)

HGVS:

NC_000006.12:g.142772372del
NG_047004.1:g.177830del
NM_006734.4:c.2367delMANE SELECT
NP_006725.3:p.Gly791fs
NC_000006.11:g.143093509del
NM_006734.4:c.2367delAMANE SELECT

Protein change:

G791fs

Molecular consequence:

NM_006734.4:c.2367del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Intellectual disability, autosomal dominant 43 (MRD43)
Synonyms:: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 43
Identifiers:: MONDO: MONDO:0014858; MedGen: C4310771; OMIM: 616977

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003035411	Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	criteria provided, single submitter (ACGS Guidelines, 2020)	Likely pathogenic (Jun 3, 2022)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003035411

Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

criteria provided, single submitter

(ACGS Guidelines, 2020)

Likely pathogenic
(Jun 3, 2022)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues, SCV003035411.1

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

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

Last Updated: Feb 4, 2024

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