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NM_000350.3(ABCA4):c.2744-5C>T AND Retinitis Pigmentosa, Recessive

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000323753.5

Allele description [Variation Report for NM_000350.3(ABCA4):c.2744-5C>T]

NM_000350.3(ABCA4):c.2744-5C>T

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.2744-5C>T
HGVS:
  • NC_000001.11:g.94047098G>A
  • NG_009073.1:g.79052C>T
  • NG_009073.2:g.79050C>T
  • NM_000350.3:c.2744-5C>TMANE SELECT
  • NC_000001.10:g.94512654G>A
  • NM_000350.2:c.2744-5C>T
Links:
dbSNP: rs76305791
NCBI 1000 Genomes Browser:
rs76305791
Molecular consequence:
  • NM_000350.3:c.2744-5C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Retinitis Pigmentosa, Recessive
Identifiers:
MedGen: CN239466

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000359442Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Likely benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000359442.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024