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NM_000350.3(ABCA4):c.5714+5G>A AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000845081.9

Allele description [Variation Report for NM_000350.3(ABCA4):c.5714+5G>A]

NM_000350.3(ABCA4):c.5714+5G>A

Gene:
ABCA4:ATP binding cassette subfamily A member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p22.1
Genomic location:
Preferred name:
NM_000350.3(ABCA4):c.5714+5G>A
HGVS:
  • NC_000001.11:g.94010795C>T
  • NG_009073.1:g.115355G>A
  • NG_009073.2:g.115353G>A
  • NM_000350.3:c.5714+5G>AMANE SELECT
  • NC_000001.10:g.94476351C>T
  • NM_000350.2:c.5714+5G>A
Nucleotide change:
IVS40DS, G-A, +5
Links:
OMIM: 601691.0010; dbSNP: rs61751407
NCBI 1000 Genomes Browser:
rs61751407
Molecular consequence:
  • NM_000350.3:c.5714+5G>A - intron variant - [Sequence Ontology: SO:0001627]
Functional consequence:
sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071]

Condition(s)

Name:
Stargardt disease (FFM)
Synonyms:
Stargardt's disease; Fundus flavimaculatus
Identifiers:
MONDO: MONDO:0019353; MedGen: C0271093; Orphanet: 827
Name:
Cone-rod dystrophy
Synonyms:
Cone/cone-rod dystrophy; Cone-rod degeneration
Identifiers:
MONDO: MONDO:0015993; MedGen: C4085590; OMIM: PS120970; Human Phenotype Ontology: HP:0000548

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000986928GenomeConnect, ClinGen
no classification provided
not providedpaternalphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000986928.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpretted as pathogenic and reported on 07/26/2017 by GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Dec 22, 2024