NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter) AND Stargardt disease 1

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Jan 30, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000408491.2

Allele description [Variation Report for NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter)]

NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter)

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.1903C>T (p.Gln635Ter)
HGVS:
  • NC_000001.11:g.94062611G>A
  • NG_009073.1:g.63539C>T
  • NM_000350.3:c.1903C>TMANE SELECT
  • NP_000341.2:p.Gln635Ter
  • NC_000001.10:g.94528167G>A
  • NM_000350.2:c.1903C>T
Protein change:
Q635*
Links:
dbSNP: rs61749414
NCBI 1000 Genomes Browser:
rs61749414
Molecular consequence:
  • NM_000350.3:c.1903C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Stargardt disease 1 (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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000281835Institute of Human Genetics, Univ. Regensburg,Univ. Regensburgcriteria provided, single submitter
Pathogenic
(Jan 1, 2016)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV001548025Institute of Medical Molecular Genetics, University of Zurichcriteria provided, single submitter
Likely pathogenic
(Jan 30, 2021)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided335not providedclinical testing
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

Rivera A, White K, Stöhr H, Steiner K, Hemmrich N, Grimm T, Jurklies B, Lorenz B, Scholl HP, Apfelstedt-Sylla E, Weber BH.

Am J Hum Genet. 2000 Oct;67(4):800-13. Epub 2000 Aug 24.

PubMed [citation]
PMID:
10958763
PMCID:
PMC1287885

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 (5)

Details of each submission

From Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg, SCV000281835.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes335not providednot provided1not providednot providednot provided

From Institute of Medical Molecular Genetics, University of Zurich, SCV001548025.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 7, 2021

Support Center