NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs) AND not provided

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 8, 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:: RCV000413475.1

Allele description

NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs)

Gene:

ABCA4:ATP binding cassette subfamily A member 4 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

1p22.1

Genomic location:

Preferred name:

NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs)

HGVS:

NC_000001.11:g.94042879_94042880dup
NG_009073.1:g.83271_83272dup
NM_000350.3:c.3210_3211dup
NP_000341.2:p.Ser1071fs
NC_000001.10:g.94508433_94508434insAC
NC_000001.10:g.94508435_94508436dup
NM_000350.2:c.3210_3211dupGT

Links:

dbSNP: rs387906385

NCBI 1000 Genomes Browser:

rs387906385

Molecular consequence:

NM_000350.3:c.3210_3211dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:: MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000490374	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Aug 8, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000490374

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Aug 8, 2016)

germline

clinical testing

Citation Link

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	clinical testing

Details of each submission

From GeneDx, SCV000490374.1

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

Description

The c.3210_3211dupGT variant in the ABCA4 gene has been reported previously (as 3211insGT) in association with Stargardt disease and other ABCA4-related disorders (Allikmets et al., 1997; Briggs et al., 2001; Eisenberger et al., 2013; Riveiro-Alvarez et al., 2013). The duplication causes a frameshift starting with codon Serine 1071, changes this amino acid to a Cysteine residue and creates a premature Stop codon at position 14 of the new reading frame, denoted p.Ser1071CysfsX14. This variant is predicted to result in nonsense-mediated mRNA decay or in premature protein truncation. The NHLBI ESP Exome Variant Server reports that c.3210_3211dupGT was not observed in approximately 6,500 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations.

#	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: Feb 11, 2020

ClinVar

Relating variation to medicine