NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) AND Retinitis pigmentosa 19

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Jan 23, 2015
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000210286.4

Allele description [Variation Report for NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)]

NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)

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.4577C>T (p.Thr1526Met)

HGVS:

NC_000001.11:g.94025011G>A
NG_009073.1:g.101139C>T
NG_009073.2:g.101137C>T
NM_000350.3:c.4577C>TMANE SELECT
NM_001425324.1:c.4355C>T
NP_000341.2:p.Thr1526Met
NP_001412253.1:p.Thr1452Met
NC_000001.10:g.94490567G>A
NM_000350.2:c.4577C>T
P78363:p.Thr1526Met

Protein change:

T1452M

Links:

UniProtKB: P78363#VAR_008456; dbSNP: rs61750152

NCBI 1000 Genomes Browser:

rs61750152

Molecular consequence:

NM_000350.3:c.4577C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001425324.1:c.4355C>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

Recent activity

Clear Turn Off Turn On

Rattus norvegicus TXK tyrosine kinase (Txk), mRNA
Rattus norvegicus TXK tyrosine kinase (Txk), mRNA
gi|66730394|ref|NM_001024255.1|

Nucleotide
serine palmitoyltransferase 2 [Rattus norvegicus]
serine palmitoyltransferase 2 [Rattus norvegicus]
gi|79749411|ref|NP_001032174.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000259076	Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals	no assertion criteria provided	Likely pathogenic (Jan 23, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001760052	Genomics England Pilot Project, Genomics England	no assertion criteria provided (ACGS Guidelines, 2016)	Likely pathogenic	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000259076

Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

no assertion criteria provided

Likely pathogenic
(Jan 23, 2015)

germline

clinical testing

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

SCV001760052

Genomics England Pilot Project, Genomics England

no assertion criteria provided

(ACGS Guidelines, 2016)

Likely pathogenic

germline

clinical testing

Citation Link

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	clinical testing

Citations

PubMed

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

Ellingford JM, Barton S, Bhaskar S, Williams SG, Sergouniotis PI, O'Sullivan J, Lamb JA, Perveen R, Hall G, Newman WG, Bishop PN, Roberts SA, Leach R, Tearle R, Bayliss S, Ramsden SC, Nemeth AH, Black GC.

Ophthalmology. 2016 May;123(5):1143-50. doi: 10.1016/j.ophtha.2016.01.009. Epub 2016 Feb 9.

PubMed [citation]

PMID:: 26872967
PMCID:: PMC4845717

Details of each submission

From Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals, SCV000259076.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	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

From Genomics England Pilot Project, Genomics England, SCV001760052.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	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 10, 2024

ClinVar

Relating variation to medicine