NM_000350.3(ABCA4):c.2908del (p.Thr970fs) AND Stargardt disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 20, 2022
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:: RCV002469415.1

Allele description [Variation Report for NM_000350.3(ABCA4):c.2908del (p.Thr970fs)]

NM_000350.3(ABCA4):c.2908del (p.Thr970fs)

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.2908del (p.Thr970fs)

HGVS:

NC_000001.11:g.94046932del
NG_009073.1:g.79221del
NG_009073.2:g.79219del
NM_000350.3:c.2908delMANE SELECT
NM_001425324.1:c.2683delA
NP_000341.2:p.Thr970fs
NP_001412253.1:p.Thr896Profs
NC_000001.10:g.94512485del
NC_000001.10:g.94512488del

Protein change:

T970fs

Links:

dbSNP: rs2101057076

NCBI 1000 Genomes Browser:

rs2101057076

Molecular consequence:

NM_000350.3:c.2908del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001425324.1:c.2683delA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Stargardt disease (FFM)
Synonyms:: Stargardt's disease; Fundus flavimaculatus
Identifiers:: MONDO: MONDO:0019353; MedGen: C0271093; Orphanet: 827

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minor tail protein [Staphylococcus phage 42E]
minor tail protein [Staphylococcus phage 42E]
gi|66395510|ref|YP_239877.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002765151	Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana	no assertion criteria provided	Pathogenic (Dec 20, 2022)	biparental	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002765151

Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana

no assertion criteria provided

Pathogenic
(Dec 20, 2022)

biparental

research

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	biparental	yes	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center.

Wang Y, Sun W, Zhou J, Li X, Jiang Y, Li S, Jia X, Xiao X, Ouyang J, Wang Y, Zhou L, Long Y, Liu M, Li Y, Yi Z, Wang P, Zhang Q.

Invest Ophthalmol Vis Sci. 2022 May 2;63(5):28. doi: 10.1167/iovs.63.5.28.

PubMed [citation]

PMID:: 35608843
PMCID:: PMC9150840

Details of each submission

From Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana, SCV002765151.1

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

Description

PVS1,PM2,PP5 ACMG Criteria

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

Last Updated: Sep 29, 2024

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