rs11960
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000377813.6(RRBP1):c.3596C>T(p.Ser1199Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.673 in 1,610,528 control chromosomes in the GnomAD database, including 383,119 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000377813.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RRBP1 | NM_001365613.2 | c.3596C>T | p.Ser1199Leu | missense_variant | 19/25 | ENST00000377813.6 | NP_001352542.1 | |
RRBP1 | NM_001042576.2 | c.2297C>T | p.Ser766Leu | missense_variant | 20/26 | NP_001036041.2 | ||
RRBP1 | NM_004587.3 | c.2297C>T | p.Ser766Leu | missense_variant | 19/25 | NP_004578.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RRBP1 | ENST00000377813.6 | c.3596C>T | p.Ser1199Leu | missense_variant | 19/25 | 1 | NM_001365613.2 | ENSP00000367044 | A2 |
Frequencies
GnomAD3 genomes AF: 0.539 AC: 81928AN: 152052Hom.: 27389 Cov.: 33
GnomAD3 exomes AF: 0.621 AC: 154745AN: 249008Hom.: 52411 AF XY: 0.630 AC XY: 85031AN XY: 134870
GnomAD4 exome AF: 0.687 AC: 1002381AN: 1458356Hom.: 355738 Cov.: 38 AF XY: 0.685 AC XY: 497256AN XY: 725470
GnomAD4 genome AF: 0.538 AC: 81920AN: 152172Hom.: 27381 Cov.: 33 AF XY: 0.539 AC XY: 40125AN XY: 74410
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at