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NM_000350.3(ABCA4):c.4873C>T (p.His1625Tyr) AND Retinitis pigmentosa 19

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 30, 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:
RCV001353028.1

Allele description [Variation Report for NM_000350.3(ABCA4):c.4873C>T (p.His1625Tyr)]

NM_000350.3(ABCA4):c.4873C>T (p.His1625Tyr)

Genes:
ABCA4:ATP binding cassette subfamily A member 4 [Gene - OMIM - HGNC]
LOC126805793:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:94486302-94487501 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
1p22.1
Genomic location:
Preferred name:
NM_000350.3(ABCA4):c.4873C>T (p.His1625Tyr)
HGVS:
  • NC_000001.11:g.94021385G>A
  • NG_009073.1:g.104765C>T
  • NG_009073.2:g.104763C>T
  • NG_082117.1:g.740G>A
  • NM_000350.3:c.4873C>TMANE SELECT
  • NM_001425324.1:c.4651C>T
  • NP_000341.2:p.His1625Tyr
  • NP_001412253.1:p.His1551Tyr
  • NC_000001.10:g.94486941G>A
  • NM_000350.2:c.4873C>T
Protein change:
H1551Y
Links:
dbSNP: rs1085307968
NCBI 1000 Genomes Browser:
rs1085307968
Molecular consequence:
  • NM_000350.3:c.4873C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001425324.1:c.4651C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Retinitis pigmentosa 19 (RP19)
Synonyms:
ABCA4-Related Retinitis Pigmentosa
Identifiers:
MONDO: MONDO:0011137; MedGen: C1866422; Orphanet: 791; OMIM: 601718

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001548140Institute of Medical Molecular Genetics, University of Zurich
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 30, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical 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

Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.

Maggi J, Koller S, Bähr L, Feil S, Kivrak Pfiffner F, Hanson JVM, Maspoli A, Gerth-Kahlert C, Berger W.

Int J Mol Sci. 2021 Feb 3;22(4). doi:pii: 1508. 10.3390/ijms22041508.

PubMed [citation]
PMID:
33546218
PMCID:
PMC7913364

Details of each submission

From Institute of Medical Molecular Genetics, University of Zurich, SCV001548140.1

#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 29, 2024