NM_000350.3(ABCA4):c.4774-17_4774-16del AND Stargardt Disease, Recessive

Germline classification:: 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:: RCV000364584.5

Allele description [Variation Report for NM_000350.3(ABCA4):c.4774-17_4774-16del]

NM_000350.3(ABCA4):c.4774-17_4774-16del

Genes:

ABCA4:ATP binding cassette subfamily A member 4 [Gene - OMIM - HGNC]
LOC126805793:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:94486302-94487501 [Gene]

Variant type:

Deletion

Cytogenetic location:

1p22.1

Genomic location:

Preferred name:

NM_000350.3(ABCA4):c.4774-17_4774-16del

HGVS:

NC_000001.11:g.94021731_94021732del
NG_009073.1:g.104419_104420del
NG_009073.2:g.104417_104418del
NG_082117.1:g.1086_1087del
NM_000350.3:c.4774-17_4774-16delMANE SELECT
NC_000001.10:g.94487286_94487287del
NC_000001.10:g.94487287_94487288del
NM_000350.2:c.4774-17_4774-16delGT

Links:

dbSNP: rs55860151

NCBI 1000 Genomes Browser:

rs55860151

Molecular consequence:

NM_000350.3:c.4774-17_4774-16del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Stargardt Disease, Recessive
Identifiers:: MedGen: CN239312

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000359297	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Benign (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000359297

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000359297.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 30, 2024

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