rs62645749
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM1BP4_ModerateBS1
The NM_201253.3(CRB1):c.614T>C(p.Ile205Thr) variant causes a missense change. The variant allele was found at a frequency of 0.000494 in 1,613,878 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_201253.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CRB1 | NM_201253.3 | c.614T>C | p.Ile205Thr | missense_variant | Exon 2 of 12 | ENST00000367400.8 | NP_957705.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000499 AC: 76AN: 152224Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000599 AC: 150AN: 250566Hom.: 1 AF XY: 0.000531 AC XY: 72AN XY: 135596
GnomAD4 exome AF: 0.000494 AC: 722AN: 1461536Hom.: 1 Cov.: 33 AF XY: 0.000470 AC XY: 342AN XY: 727072
GnomAD4 genome AF: 0.000499 AC: 76AN: 152342Hom.: 0 Cov.: 33 AF XY: 0.000510 AC XY: 38AN XY: 74506
ClinVar
Submissions by phenotype
not provided Uncertain:2Other:1
- -
- -
- -
Retinitis pigmentosa Pathogenic:1Benign:1
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. -
- -
Leber congenital amaurosis 8 Benign:2
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. -
- -
Leber congenital amaurosis 1 Uncertain:1
- -
Leber congenital amaurosis Benign:1
- -
Retinitis pigmentosa 12;C3151202:Leber congenital amaurosis 8 Benign:1
- -
Intellectual disability Benign:1
- -
Pigmented paravenous retinochoroidal atrophy Benign:1
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at