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NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 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:
RCV000763044.11

Allele description [Variation Report for NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)]

NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)

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.4139C>T (p.Pro1380Leu)
Other names:
NP_000341.2:p.(Pro1380Leu)
HGVS:
  • NC_000001.11:g.94031110G>A
  • NG_009073.1:g.95040C>T
  • NG_009073.2:g.95038C>T
  • NM_000350.3:c.4139C>TMANE SELECT
  • NM_001425324.1:c.3917C>T
  • NP_000341.2:p.Pro1380Leu
  • NP_000341.2:p.Pro1380Leu
  • NP_001412253.1:p.Pro1306Leu
  • NC_000001.10:g.94496666G>A
  • NM_000350.2:c.4139C>T
  • P78363:p.Pro1380Leu
Protein change:
P1306L; PRO1380LEU
Links:
UniProtKB: P78363#VAR_008443; OMIM: 601691.0026; dbSNP: rs61750130
NCBI 1000 Genomes Browser:
rs61750130
Molecular consequence:
  • NM_000350.3:c.4139C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001425324.1:c.3917C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cone-rod dystrophy 3 (CORD3)
Identifiers:
MONDO: MONDO:0011395; MedGen: C1858806; Orphanet: 1872; OMIM: 604116
Name:
Age related macular degeneration 2
Synonyms:
MACULAR DEGENERATION, SENILE; MACULOPATHY, AGE-RELATED, 2; MACULOPATHY, AGE-RELATED
Identifiers:
MONDO: MONDO:0007932; MedGen: C3495438; OMIM: 153800
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
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
SCV000893525Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Oct 8, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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
PMC

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.

Genetics in medicine : official journal of the American College of Medical Genetics. 2015 Mar 5; 17(5): 405-424

PMC [article]
PMCID:
PMC4544753
PMID:
25741868
DOI:
10.1038/gim.2015.30

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV000893525.2

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

Last Updated: Nov 24, 2024