NM_000350.3(ABCA4):c.6729+5_6729+19del AND Cone-rod dystrophy 3

Germline classification:: Pathogenic (1 submission)
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:: RCV000416441.2

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:: Cone-rod dystrophy 3 (CORD3)
Identifiers:: MONDO: MONDO:0011395; MedGen: C1858806; Orphanet: 1872; OMIM: 604116

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000494173	Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	no assertion criteria provided	Pathogenic	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000494173

Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

no assertion criteria provided

Pathogenic

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000494173.1

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

Description

This variant was identified as homozygous in an individual with cone rod dystrophy.

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

Last Updated: Sep 8, 2024

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