rs267606691
Variant summary
Our verdict is Pathogenic. The variant received 11 ACMG points: 11P and 0B. PVS1PM2PP5
The NM_001029883.3(PCARE):c.556C>T(p.Gln186*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,890 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_001029883.3 stop_gained
Scores
Clinical Significance
Conservation
Publications
- PCARE-related retinopathyInheritance: AR Classification: DEFINITIVE Submitted by: ClinGen
- retinitis pigmentosa 54Inheritance: AR Classification: DEFINITIVE Submitted by: G2P
- retinitis pigmentosaInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Our verdict: Pathogenic. The variant received 11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PCARE | NM_001029883.3 | c.556C>T | p.Gln186* | stop_gained | Exon 1 of 2 | ENST00000331664.6 | NP_001025054.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PCARE | ENST00000331664.6 | c.556C>T | p.Gln186* | stop_gained | Exon 1 of 2 | 2 | NM_001029883.3 | ENSP00000332809.4 | ||
ENSG00000308575 | ENST00000835145.1 | n.224+4539G>A | intron_variant | Intron 2 of 2 | ||||||
ENSG00000308575 | ENST00000835146.1 | n.207+4539G>A | intron_variant | Intron 2 of 2 | ||||||
ENSG00000308575 | ENST00000835147.1 | n.171+4539G>A | intron_variant | Intron 2 of 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461890Hom.: 0 Cov.: 37 AF XY: 0.00 AC XY: 0AN XY: 727246 show subpopulations
Age Distribution
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Retinitis pigmentosa 54 Pathogenic:1
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Retinitis pigmentosa Pathogenic:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at