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NM_012106.4(ARL2BP):c.191del (p.Pro64fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 11, 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:
RCV002614704.2

Allele description [Variation Report for NM_012106.4(ARL2BP):c.191del (p.Pro64fs)]

NM_012106.4(ARL2BP):c.191del (p.Pro64fs)

Gene:
ARL2BP:ADP ribosylation factor like GTPase 2 binding protein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16q13
Genomic location:
Preferred name:
NM_012106.4(ARL2BP):c.191del (p.Pro64fs)
HGVS:
  • NC_000016.10:g.57248627del
  • NG_033905.1:g.8502del
  • NM_012106.4:c.191delMANE SELECT
  • NP_036238.1:p.Pro64fs
  • NC_000016.9:g.57282538del
  • NC_000016.9:g.57282539del
Protein change:
P64fs
Molecular consequence:
  • NM_012106.4:c.191del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002962388Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jul 11, 2022) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa.

Davidson AE, Schwarz N, Zelinger L, Stern-Schneider G, Shoemark A, Spitzbarth B, Gross M, Laxer U, Sosna J, Sergouniotis PI, Waseem NH, Wilson R, Kahn RA, Plagnol V, Wolfrum U, Banin E, Hardcastle AJ, Cheetham ME, Sharon D, Webster AR.

Am J Hum Genet. 2013 Aug 8;93(2):321-9. doi: 10.1016/j.ajhg.2013.06.003. Epub 2013 Jul 11.

PubMed [citation]
PMID:
23849777
PMCID:
PMC3738823

ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant.

Audo I, El Shamieh S, Méjécase C, Michiels C, Demontant V, Antonio A, Condroyer C, Boyard F, Letexier M, Saraiva JP, Blanchard S, Mohand-Saïd S, Sahel JA, Zeitz C.

Clin Genet. 2017 Jul;92(1):109-111. doi: 10.1111/cge.12909. Epub 2017 Feb 6.

PubMed [citation]
PMID:
27790702
See all PubMed Citations (5)

Details of each submission

From Invitae, SCV002962388.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ARL2BP-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro64Leufs*10) in the ARL2BP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ARL2BP are known to be pathogenic (PMID: 23849777, 27790702, 29718757, 30210231).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 28, 2024