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NM_000350.3(ABCA4):c.6308C>A (p.Pro2103His) AND Severe early-childhood-onset retinal dystrophy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 19, 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:
RCV001526707.1

Allele description [Variation Report for NM_000350.3(ABCA4):c.6308C>A (p.Pro2103His)]

NM_000350.3(ABCA4):c.6308C>A (p.Pro2103His)

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.6308C>A (p.Pro2103His)
HGVS:
  • NC_000001.11:g.94001080G>T
  • NG_009073.1:g.125070C>A
  • NG_009073.2:g.125068C>A
  • NM_000350.3:c.6308C>AMANE SELECT
  • NM_001425324.1:c.6086C>A
  • NP_000341.2:p.Pro2103His
  • NP_001412253.1:p.Pro2029His
  • NC_000001.10:g.94466636G>T
Protein change:
P2029H
Links:
dbSNP: rs2100994049
NCBI 1000 Genomes Browser:
rs2100994049
Molecular consequence:
  • NM_000350.3:c.6308C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001425324.1:c.6086C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001737129DBGen Ocular Genomics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(May 19, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not 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

Details of each submission

From DBGen Ocular Genomics, SCV001737129.1

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

Last Updated: Mar 30, 2024