NM_000350.3(ABCA4):c.6709dup (p.Thr2237fs) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jul 23, 2023
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:: RCV000085846.3

Allele description [Variation Report for NM_000350.3(ABCA4):c.6709dup (p.Thr2237fs)]

NM_000350.3(ABCA4):c.6709dup (p.Thr2237fs)

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.6709dup (p.Thr2237fs)

HGVS:

NC_000001.11:g.93997881dup
NG_009073.1:g.128269dup
NG_009073.2:g.128267dup
NM_000350.3:c.6709dupMANE SELECT
NM_001425324.1:c.6487dup
NP_000341.2:p.Thr2237fs
NP_001412253.1:p.Thr2163Asnfs
NC_000001.10:g.94463436_94463437insT
NC_000001.10:g.94463437dup
NM_000350.2:c.6709_6710insA

Protein change:

T2237fs

Links:

dbSNP: rs281865383

NCBI 1000 Genomes Browser:

rs281865383

Molecular consequence:

NM_000350.3:c.6709dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001425324.1:c.6487dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000117989	Retina International	no classification provided	not provided	not provided	not provided
SCV004292350	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jul 23, 2023)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 10958761, 24938718, 25312043, 26780318, 11379881, 28341476, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000117989

Retina International

no classification provided

not provided

SCV004292350

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jul 23, 2023)

germline

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

Description

http://phencode.bx.psu.edu/cgi-bin/phencode/phencode?build=hg19&id=RISN_ABCR:c.6709_6710insA: SCV000117989

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
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

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

Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.

Xu Y, Guan L, Shen T, Zhang J, Xiao X, Jiang H, Li S, Yang J, Jia X, Yin Y, Guo X, Wang J, Zhang Q.

Hum Genet. 2014 Oct;133(10):1255-71. doi: 10.1007/s00439-014-1460-2. Epub 2014 Jun 18.

PubMed [citation]

PMID:: 24938718

See all PubMed Citations (7)

Details of each submission

From Retina International, SCV000117989.1

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

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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004292350.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

Description

This sequence change creates a premature translational stop signal (p.Thr2237Asnfs*14) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 99485). This premature translational stop signal has been observed in individual(s) with cone/cone-rod dystrophy and/or Stargardt disease (PMID: 11379881, 28341476). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency).

#	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

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