NM_000350.3(ABCA4):c.3540_3555del (p.Ser1181fs) AND Cone-rod dystrophy 3

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 1, 2008
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:: RCV000008369.3

Allele description

NM_000350.3(ABCA4):c.3540_3555del (p.Ser1181fs)

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.3540_3555del (p.Ser1181fs)

HGVS:

NC_000001.11:g.94040096_94040111del
NG_009073.1:g.86040_86055del
NM_000350.3:c.3540_3555delMANE SELECT
NP_000341.2:p.Ser1181fs
NC_000001.10:g.94505652_94505667del
NP_000341.2:p.Ser1181fs

Protein change:

S1181fs

Links:

OMIM: 601691.0032; dbSNP: rs387906388

NCBI 1000 Genomes Browser:

rs387906388

Molecular consequence:

NM_000350.3:c.3540_3555del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000028577	OMIM	no assertion criteria provided	Pathogenic (Jul 1, 2008)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000028577

OMIM

no assertion criteria provided

Pathogenic
(Jul 1, 2008)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.

Kitiratschky VB, Grau T, Bernd A, Zrenner E, Jägle H, Renner AB, Kellner U, Rudolph G, Jacobson SG, Cideciyan AV, Schaich S, Kohl S, Wissinger B.

Eur J Hum Genet. 2008 Jul;16(7):812-9. doi: 10.1038/ejhg.2008.23. Epub 2008 Feb 20.

PubMed [citation]

PMID:: 18285826
PMCID:: PMC2579899

Details of each submission

From OMIM, SCV000028577.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of the 15-bp deletion in the ABCA4 gene that was found in compound heterozygous state in patients with cone-rod dystrophy (CORD3; 604116) by Kitiratschky et al. (2008), see 601691.0031.

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

Last Updated: Jun 18, 2022

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