NM_000350.3(ABCA4):c.3349A>C (p.Thr1117Pro) AND Severe early-childhood-onset retinal dystrophy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 31, 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:: RCV001591820.1

Allele description [Variation Report for NM_000350.3(ABCA4):c.3349A>C (p.Thr1117Pro)]

NM_000350.3(ABCA4):c.3349A>C (p.Thr1117Pro)

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.3349A>C (p.Thr1117Pro)

HGVS:

NC_000001.11:g.94041382T>G
NG_009073.1:g.84768A>C
NG_009073.2:g.84766A>C
NM_000350.3:c.3349A>CMANE SELECT
NM_001425324.1:c.3127A>C
NP_000341.2:p.Thr1117Pro
NP_001412253.1:p.Thr1043Pro
NC_000001.10:g.94506938T>G

Protein change:

T1043P

Links:

dbSNP: rs2101048742

NCBI 1000 Genomes Browser:

rs2101048742

Molecular consequence:

NM_000350.3:c.3349A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001425324.1:c.3127A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Severe early-childhood-onset retinal dystrophy (STGD1)
Synonyms:: MACULAR DYSTROPHY WITH FLECKS, TYPE 1; STGD; Stargardt macular dystrophy; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009549; MeSH: D000080362; MedGen: C1855465; Orphanet: 827; OMIM: 248200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001815927	DBGen Ocular Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (May 31, 2021)	germline	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

SCV001815927

DBGen Ocular Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(May 31, 2021)

germline

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
unspecified	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 DBGen Ocular Genomics, SCV001815927.1

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

#	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: Mar 30, 2024

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