NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) AND Macular dystrophy

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Nov 22, 2021
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:: RCV000787495.2

Allele description [Variation Report for NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)]

NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)

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.3113C>T (p.Ala1038Val)

HGVS:

NC_000001.11:g.94043413G>A
NG_009073.1:g.82737C>T
NG_009073.2:g.82735C>T
NM_000350.3:c.3113C>TMANE SELECT
NM_001425324.1:c.2891C>T
NP_000341.2:p.Ala1038Val
NP_001412253.1:p.Ala964Val
NC_000001.10:g.94508969G>A
NM_000350.2:c.3113C>T
P78363:p.Ala1038Val

Protein change:

A1038V; ALA1038VAL

Links:

UniProtKB: P78363#VAR_008433; OMIM: 601691.0016; OMIM: 601691.0023; dbSNP: rs61751374

NCBI 1000 Genomes Browser:

rs61751374

Molecular consequence:

NM_000350.3:c.3113C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001425324.1:c.2891C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Macular dystrophy
Identifiers:: MedGen: C0730292; Human Phenotype Ontology: HP:0007754

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000926461	Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet - VeluxRD	no assertion criteria provided	Pathogenic (Apr 1, 2018)	unknown	research	PubMed (1) [See all records that cite this PMID]
SCV002044408	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Nov 22, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000926461

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

no assertion criteria provided

Pathogenic
(Apr 1, 2018)

unknown

research

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

SCV002044408

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Nov 22, 2021)

unknown

clinical testing

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	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing, 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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet - VeluxRD, SCV000926461.2

#	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 Institute of Human Genetics, University of Leipzig Medical Center, SCV002044408.1

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

Description

_x000D_This variant was identified aspotentially compound heterozygous withNM_000350.3:c.1622T>C and NM_000350.3:c.5882G>A. Criteria applied: PM3_VSTR, PS3_MOD, PP3

#	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

Last Updated: Apr 15, 2024

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