NM_001077620.3(PRCD):c.143+1G>A AND Retinitis pigmentosa 36

Germline classification:: Pathogenic (1 submission)
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:: RCV001542695.2

Allele description [Variation Report for NM_001077620.3(PRCD):c.143+1G>A]

NM_001077620.3(PRCD):c.143+1G>A

Genes:

CYGB:cytoglobin [Gene - OMIM - HGNC]
PRCD:photoreceptor disc component [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.1

Genomic location:

Preferred name:

NM_001077620.3(PRCD):c.143+1G>A

HGVS:

NC_000017.11:g.76540574G>A
NG_016702.1:g.17989G>A
NG_016702.2:g.17990G>A
NM_001077620.3:c.143+1G>AMANE SELECT
NC_000017.10:g.74536656G>A

Links:

dbSNP: rs2074979676

NCBI 1000 Genomes Browser:

rs2074979676

Molecular consequence:

NM_001077620.3:c.143+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Retinitis pigmentosa 36 (RP36)
Synonyms:: RP 36
Identifiers:: MONDO: MONDO:0012523; MedGen: C1864621; Orphanet: 791; OMIM: 610599

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001760411	Genomics England Pilot Project, Genomics England	no assertion criteria provided (ACGS Guidelines, 2016)	Pathogenic	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001760411

Genomics England Pilot Project, Genomics England

no assertion criteria provided

(ACGS Guidelines, 2016)

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

Details of each submission

From Genomics England Pilot Project, Genomics England, SCV001760411.1

#	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: Dec 24, 2023

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