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NM_000350.3(ABCA4):c.6729+5_6729+19del AND Retinitis pigmentosa

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 1, 2015
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:
RCV000504933.2

Allele description [Variation Report for NM_000350.3(ABCA4):c.6729+5_6729+19del]

NM_000350.3(ABCA4):c.6729+5_6729+19del

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.6729+5_6729+19del
HGVS:
  • NC_000001.11:g.93997843_93997857del
  • NG_009073.1:g.128294_128308del
  • NG_009073.2:g.128292_128306del
  • NM_000350.3:c.6729+5_6729+19delMANE SELECT
  • NC_000001.10:g.94463398_94463412del
  • NC_000001.10:g.94463399_94463413del
  • NM_000350.2:c.6729+5_6729+19del
  • NM_000350.2:c.6729+5_6729+19delGTTGGCCCTGGGGCA
Links:
dbSNP: rs749526785
NCBI 1000 Genomes Browser:
rs749526785
Molecular consequence:
  • NM_000350.3:c.6729+5_6729+19del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Retinitis pigmentosa (RP)
Synonyms:
Tapetoretinal degeneration
Identifiers:
MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000599022NIHR Bioresource Rare Diseases, University of Cambridge
no assertion criteria provided
Likely pathogenic
(Jan 1, 2015) 		unknownresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
South East Asianunknownyes1not providednot provided1not providedresearch

Citations

PubMed

Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.

Littink KW, Koenekoop RK, van den Born LI, Collin RW, Moruz L, Veltman JA, Roosing S, Zonneveld MN, Omar A, Darvish M, Lopez I, Kroes HY, van Genderen MM, Hoyng CB, Rohrschneider K, van Schooneveld MJ, Cremers FP, den Hollander AI.

Invest Ophthalmol Vis Sci. 2010 Nov;51(11):5943-51. doi: 10.1167/iovs.10-5797. Epub 2010 Jun 16.

PubMed [citation]
PMID:
20554613
PMCID:
PMC3061516

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, et al.

Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29.

PubMed [citation]
PMID:
28041643
PMCID:
PMC5223092

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV000599022.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1South East Asian1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 8, 2024