rs3902057
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_201253.3(CRB1):āc.1410A>Gā(p.Leu470=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.987 in 1,614,162 control chromosomes in the GnomAD database, including 788,214 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ). Synonymous variant affecting the same amino acid position (i.e. L470L) has been classified as Likely benign.
Frequency
Consequence
NM_201253.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CRB1 | NM_201253.3 | c.1410A>G | p.Leu470= | synonymous_variant | 6/12 | ENST00000367400.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CRB1 | ENST00000367400.8 | c.1410A>G | p.Leu470= | synonymous_variant | 6/12 | 1 | NM_201253.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.931 AC: 141711AN: 152182Hom.: 66882 Cov.: 33
GnomAD3 exomes AF: 0.982 AC: 246879AN: 251444Hom.: 121691 AF XY: 0.987 AC XY: 134106AN XY: 135892
GnomAD4 exome AF: 0.993 AC: 1451059AN: 1461860Hom.: 721292 Cov.: 66 AF XY: 0.994 AC XY: 722602AN XY: 727236
GnomAD4 genome ? AF: 0.931 AC: 141809AN: 152302Hom.: 66922 Cov.: 33 AF XY: 0.935 AC XY: 69618AN XY: 74468
ClinVar
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Jan 20, 2016 | - - |
Leber congenital amaurosis Benign:1
Benign, no assertion criteria provided | clinical testing | Natera, Inc. | Nov 16, 2019 | - - |
Retinitis pigmentosa 12;C3151202:Leber congenital amaurosis 8 Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Feb 01, 2024 | - - |
Leber congenital amaurosis 8 Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Jul 01, 2021 | - - |
Retinitis pigmentosa 12 Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Jul 01, 2021 | - - |
Pigmented paravenous retinochoroidal atrophy Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Jul 01, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at