NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) AND Autosomal recessive retinitis pigmentosa

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 3, 2018
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001257850.3

Allele description [Variation Report for NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)]

NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)

Gene:

ABCA4:ATP binding cassette subfamily A member 4 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p22.1

Genomic location:

Preferred name:

NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)

HGVS:

NC_000001.11:g.94007722del
NG_009073.1:g.118428del
NG_009073.2:g.118426del
NM_000350.3:c.5917delMANE SELECT
NM_001425324.1:c.5695delG
NP_000341.2:p.Gly1972_Val1973insTer
NP_001412253.1:p.Val1899Terfs
NC_000001.10:g.94473278del
NM_000350.2:c.5917del
NM_000350.2:c.5917delG
NM_000350.3:c.5917delGMANE SELECT
p.(Val1973*)

Links:

dbSNP: rs61751389

NCBI 1000 Genomes Browser:

rs61751389

Molecular consequence:

NM_001425324.1:c.5695delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_000350.3:c.5917del - nonsense - [Sequence Ontology: SO:0001587]
NM_001425324.1:c.5695delG - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Autosomal recessive retinitis pigmentosa
Identifiers:: MedGen: C0339526

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Chain A, Neuropilin-2
Chain A, Neuropilin-2
gi|1070700738|pdb|5DQ0|A

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001434617	Faculty of Health Sciences, Beirut Arab University	no assertion criteria provided	Pathogenic (Sep 3, 2018)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001434617

Faculty of Health Sciences, Beirut Arab University

no assertion criteria provided

Pathogenic
(Sep 3, 2018)

germline

literature only

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
Arab	germline	yes	4	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies.

Patel N, Alkuraya H, Alzahrani SS, Nowailaty SR, Seidahmed MZ, Alhemidan A, Ben-Omran T, Ghazi NG, Al-Aqeel A, Al-Owain M, Alzaidan HI, Faqeih E, Kurdi W, Rahbeeni Z, Ibrahim N, Abdulwahab F, Hashem M, Shaheen R, Abouelhoda M, Monies D, Khan AO, Aldahmesh MA, et al.

Clin Genet. 2018 Dec;94(6):554-563. doi: 10.1111/cge.13426. Epub 2018 Sep 3.

PubMed [citation]

PMID:: 30054919

Details of each submission

From Faculty of Health Sciences, Beirut Arab University, SCV001434617.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Arab	4	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		4	not provided	not provided	not provided

Last Updated: Sep 16, 2024

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