rs11551704
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001365613.2(RRBP1):āc.3936G>Cā(p.Thr1312Thr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000514 in 1,610,218 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: š 0.0025 ( 3 hom., cov: 34)
Exomes š: 0.00030 ( 1 hom. )
Consequence
RRBP1
NM_001365613.2 synonymous
NM_001365613.2 synonymous
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -4.42
Genes affected
RRBP1 (HGNC:10448): (ribosome binding protein 1) This gene encodes a ribosome-binding protein of the endoplasmic reticulum (ER) membrane. Studies suggest that this gene plays a role in ER proliferation, secretory pathways and secretory cell differentiation, and mediation of ER-microtubule interactions. Alternative splicing has been observed and protein isoforms are characterized by regions of N-terminal decapeptide and C-terminal heptad repeats. Splicing of the tandem repeats results in variations in ribosome-binding affinity and secretory function. The full-length nature of variants which differ in repeat length has not been determined. Pseudogenes of this gene have been identified on chromosomes 3 and 7, and RRBP1 has been excluded as a candidate gene in the cause of Alagille syndrome, the result of a mutation in a nearby gene on chromosome 20p12. [provided by RefSeq, Apr 2012]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -8 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.76).
BS2
High Homozygotes in GnomAd4 at 3 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RRBP1 | NM_001365613.2 | c.3936G>C | p.Thr1312Thr | synonymous_variant | Exon 22 of 25 | ENST00000377813.6 | NP_001352542.1 | |
RRBP1 | NM_001042576.2 | c.2637G>C | p.Thr879Thr | synonymous_variant | Exon 23 of 26 | NP_001036041.2 | ||
RRBP1 | NM_004587.3 | c.2637G>C | p.Thr879Thr | synonymous_variant | Exon 22 of 25 | NP_004578.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00252 AC: 384AN: 152220Hom.: 2 Cov.: 34
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GnomAD3 exomes AF: 0.000676 AC: 168AN: 248380Hom.: 2 AF XY: 0.000461 AC XY: 62AN XY: 134594
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GnomAD4 exome AF: 0.000302 AC: 440AN: 1457880Hom.: 1 Cov.: 31 AF XY: 0.000273 AC XY: 198AN XY: 725428
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GnomAD4 genome AF: 0.00255 AC: 388AN: 152338Hom.: 3 Cov.: 34 AF XY: 0.00255 AC XY: 190AN XY: 74490
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Not reported inComputational scores
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CADD
Benign
DANN
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at