NM_000350.3(ABCA4):c.2019_2031del (p.Ser673fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 19, 2022
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:: RCV003021784.3

Allele description [Variation Report for NM_000350.3(ABCA4):c.2019_2031del (p.Ser673fs)]

NM_000350.3(ABCA4):c.2019_2031del (p.Ser673fs)

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.2019_2031del (p.Ser673fs)

HGVS:

NC_000001.11:g.94060669_94060681del
NG_009073.2:g.65470_65482del
NM_000350.3:c.2019_2031delMANE SELECT
NM_001425324.1:c.2016_2028delGAGCATCGTCTTG
NP_000341.2:p.Ser673fs
NP_001412253.1:p.Ser673Argfs
NC_000001.10:g.94526222_94526234del
NC_000001.10:g.94526225_94526237del
NG_009073.1:g.65472_65484del

Protein change:

S673fs

Molecular consequence:

NM_000350.3:c.2019_2031del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001425324.1:c.2016_2028delGAGCATCGTCTTG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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
SCV003320473	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Feb 19, 2022)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 29854428, 10958761, 24938718, 25312043, 26780318, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003320473

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Feb 19, 2022)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

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

Citations

PubMed

Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles.

Smaragda K, Vassiliki K, George K, Polixeni S, Christoforos G, Anastasios A, Minas AI, Stavrenia K, Theoni P, Ioannis D, Miltiadis TK.

J Ophthalmol. 2018;2018:5706142. doi: 10.1155/2018/5706142. Erratum in: J Ophthalmol. 2018 Dec 16;2018:3039672. doi: 10.1155/2018/3039672.

PubMed [citation]

PMID:: 29854428
PMCID:: PMC5952432

Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.

Maugeri A, Klevering BJ, Rohrschneider K, Blankenagel A, Brunner HG, Deutman AF, Hoyng CB, Cremers FP.

Am J Hum Genet. 2000 Oct;67(4):960-6. Epub 2000 Aug 24.

PubMed [citation]

PMID:: 10958761
PMCID:: PMC1287897

See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003320473.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Stargardt disease (PMID: 29854428). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser673Argfs*6) in the ABCA4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318).

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine