rs2835285
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001236.4(CBR3):c.277G>A(p.Val93Ile) variant causes a missense change. The variant allele was found at a frequency of 0.00000124 in 1,611,036 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001236.4 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 |
---|---|---|---|---|---|---|---|
CBR3 | NM_001236.4 | c.277G>A | p.Val93Ile | missense_variant | 1/3 | ENST00000290354.6 | |
CBR3-AS1 | NR_038893.1 | n.193-2395C>T | intron_variant, non_coding_transcript_variant | ||||
CBR3 | XM_011529772.3 | c.277G>A | p.Val93Ile | missense_variant | 1/3 | ||
CBR3-AS1 | NR_038892.1 | n.193-1708C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CBR3 | ENST00000290354.6 | c.277G>A | p.Val93Ile | missense_variant | 1/3 | 1 | NM_001236.4 | P1 | |
CBR3-AS1 | ENST00000624080.1 | n.149-1996C>T | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152252Hom.: 0 Cov.: 35
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1458784Hom.: 0 Cov.: 51 AF XY: 0.00 AC XY: 0AN XY: 725428
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152252Hom.: 0 Cov.: 35 AF XY: 0.0000134 AC XY: 1AN XY: 74390
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at