NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) AND Stargardt disease

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Jul 24, 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:: RCV000787498.11

Allele description [Variation Report for NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)]

NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.1

Genomic location:

Preferred name:

NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)

Other names:

NP_000341.2:p.(Pro1380Leu)

HGVS:

NC_000001.11:g.94031110G>A
NG_009073.1:g.95040C>T
NG_009073.2:g.95038C>T
NM_000350.3:c.4139C>TMANE SELECT
NM_001425324.1:c.3917C>T
NP_000341.2:p.Pro1380Leu
NP_000341.2:p.Pro1380Leu
NP_001412253.1:p.Pro1306Leu
NC_000001.10:g.94496666G>A
NM_000350.2:c.4139C>T
P78363:p.Pro1380Leu

Protein change:

P1306L; PRO1380LEU

Links:

UniProtKB: P78363#VAR_008443; OMIM: 601691.0026; dbSNP: rs61750130

NCBI 1000 Genomes Browser:

rs61750130

Molecular consequence:

NM_000350.3:c.4139C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001425324.1:c.3917C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000926464	Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet - VeluxRD	no assertion criteria provided	Likely pathogenic (Apr 1, 2018)	unknown	research	PubMed (1) [See all records that cite this PMID]
SCV001160848	Sharon lab, Hadassah-Hebrew University Medical Center	no assertion criteria provided	Pathogenic (Jun 23, 2019)	inherited	research
SCV004030409	Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 24, 2023)	germline	research	PubMed (2) [See all records that cite these PMIDs] 36909829, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000926464

Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet - VeluxRD

no assertion criteria provided

Likely pathogenic
(Apr 1, 2018)

unknown

research

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

SCV001160848

Sharon lab, Hadassah-Hebrew University Medical Center

no assertion criteria provided

Pathogenic
(Jun 23, 2019)

inherited

research

SCV004030409

Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 24, 2023)

germline

research

PubMed (2)
[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	unknown	yes	not provided	not provided	not provided	not provided	not provided	research
not provided	inherited	yes	not provided	not provided	not provided	not provided	not provided	research
not provided	germline	yes	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Jespersgaard C, Fang M, Bertelsen M, Dang X, Jensen H, Chen Y, Bech N, Dai L, Rosenberg T, Zhang J, Møller LB, Tümer Z, Brøndum-Nielsen K, Grønskov K.

Sci Rep. 2019 Feb 4;9(1):1219. doi: 10.1038/s41598-018-38007-2.

PubMed [citation]

PMID:: 30718709
PMCID:: PMC6362094

The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.

Peter VG, Kaminska K, Santos C, Quinodoz M, Cancellieri F, Cisarova K, Pescini Gobert R, Rodrigues R, Custódio S, Paris LP, Sousa AB, Coutinho Santos L, Rivolta C.

PNAS Nexus. 2023 Mar;2(3):pgad043. doi: 10.1093/pnasnexus/pgad043.

PubMed [citation]

PMID:: 36909829
PMCID:: PMC10003751

See all PubMed Citations (3)

Details of each submission

From Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet - VeluxRD, SCV000926464.2

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

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

From Sharon lab, Hadassah-Hebrew University Medical Center, SCV001160848.1

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

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

From Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel, SCV004030409.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (2)

Description

Clinical significance based on ACMG v2.0

#	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		1	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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