NM_000350.3(ABCA4):c.1995C>A (p.Tyr665Ter) AND Severe early-childhood-onset retinal dystrophy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 8, 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:: RCV001376519.1

Allele description [Variation Report for NM_000350.3(ABCA4):c.1995C>A (p.Tyr665Ter)]

NM_000350.3(ABCA4):c.1995C>A (p.Tyr665Ter)

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.1995C>A (p.Tyr665Ter)

HGVS:

NC_000001.11:g.94060702G>T
NG_009073.1:g.65448C>A
NG_009073.2:g.65446C>A
NM_000350.3:c.1995C>AMANE SELECT
NM_001425324.1:c.1995C>A
NP_000341.2:p.Tyr665Ter
NP_001412253.1:p.Tyr665Ter
NC_000001.10:g.94526258G>T
NM_000350.2:c.1995C>A

Protein change:

Y665*

Links:

dbSNP: rs757302286

NCBI 1000 Genomes Browser:

rs757302286

Molecular consequence:

NM_000350.3:c.1995C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001425324.1:c.1995C>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV001573697	Ocular Genomics Institute, Massachusetts Eye and Ear	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 8, 2021)	germline	research	PubMed (4) [See all records that cite these PMIDs] 19339744, 25525159, 25474345, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001573697

Ocular Genomics Institute, Massachusetts Eye and Ear

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 8, 2021)

germline

research

PubMed (4)
[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	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.

Singh HP, Jalali S, Narayanan R, Kannabiran C.

Invest Ophthalmol Vis Sci. 2009 Sep;50(9):4065-71. doi: 10.1167/iovs.09-3479. Epub 2009 Apr 1.

PubMed [citation]

PMID:: 19339744
PMCID:: PMC2777646

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ.

Science. 2015 Jan 9;347(6218):1254806. doi: 10.1126/science.1254806. Epub 2014 Dec 18.

PubMed [citation]

PMID:: 25525159
PMCID:: PMC4362528

See all PubMed Citations (4)

Details of each submission

From Ocular Genomics Institute, Massachusetts Eye and Ear, SCV001573697.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (4)

Description

The ABCA4 c.1995C>A variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PVS1, PP1, PM3. Based on this evidence we have classified this variant as Pathogenic.

#	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		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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