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NM_000350.3(ABCA4):c.4302_4352+128del AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 9, 2020
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:
RCV001388182.5

Allele description [Variation Report for NM_000350.3(ABCA4):c.4302_4352+128del]

NM_000350.3(ABCA4):c.4302_4352+128del

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.4302_4352+128del
HGVS:
  • NC_000001.11:g.94030300_94030478del
  • NG_009073.1:g.95672_95850del
  • NG_009073.2:g.95670_95848del
  • NM_000350.3:c.4302_4352+128delMANE SELECT
  • NC_000001.10:g.94495856_94496034del
Links:
dbSNP: rs2101034641
NCBI 1000 Genomes Browser:
rs2101034641
Molecular consequence:
  • NM_000350.3:c.4302_4352+128del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001589054Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Sep 9, 2020) 		germlineclinical testing

PubMed (7)
[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

Cross-Sectional and Longitudinal Assessment of the Ellipsoid Zone in Childhood-Onset Stargardt Disease.

Tanna P, Georgiou M, Strauss RW, Ali N, Kumaran N, Kalitzeos A, Fujinami K, Michaelides M.

Transl Vis Sci Technol. 2019 Mar;8(2):1. doi: 10.1167/tvst.8.2.1.

PubMed [citation]
PMID:
30834176
PMCID:
PMC6397016

Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications.

Downes SM, Packham E, Cranston T, Clouston P, Seller A, Németh AH.

Arch Ophthalmol. 2012 Nov;130(11):1486-90. doi: 10.1001/archophthalmol.2012.1697. No abstract available.

PubMed [citation]
PMID:
23143460
See all PubMed Citations (7)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001589054.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

This variant results in the deletion of part of exon 29 (c.4302_4352+128del) of the ABCA4 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ABCA4-related conditions. This variant disrupts the p.Asn1442 amino acid residue in ABCA4. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 30834176, 23143460). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024