rs1302832769
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_025009.5(CEP135):c.2666G>A(p.Arg889His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000811 in 1,603,126 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_025009.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CEP135 | NM_025009.5 | c.2666G>A | p.Arg889His | missense_variant | 21/26 | ENST00000257287.5 | |
CEP135 | XM_006714055.4 | c.2633G>A | p.Arg878His | missense_variant | 21/26 | ||
CEP135 | XM_005265788.5 | c.1595G>A | p.Arg532His | missense_variant | 14/19 | ||
CEP135 | XM_011534412.2 | c.1136G>A | p.Arg379His | missense_variant | 11/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CEP135 | ENST00000257287.5 | c.2666G>A | p.Arg889His | missense_variant | 21/26 | 1 | NM_025009.5 | P1 | |
CEP135 | ENST00000506202.1 | n.2616G>A | non_coding_transcript_exon_variant | 14/19 | 1 | ||||
CEP135 | ENST00000706801.1 | n.731G>A | non_coding_transcript_exon_variant | 5/10 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152092Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000829 AC: 2AN: 241230Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 130682
GnomAD4 exome AF: 0.00000827 AC: 12AN: 1450916Hom.: 0 Cov.: 31 AF XY: 0.00000693 AC XY: 5AN XY: 721778
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152210Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74404
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 19, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at