2-169487993-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_152384.3(BBS5):āc.265C>Gā(p.Arg89Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,461,292 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R89Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_152384.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BBS5 | NM_152384.3 | c.265C>G | p.Arg89Gly | missense_variant | 5/12 | ENST00000295240.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BBS5 | ENST00000295240.8 | c.265C>G | p.Arg89Gly | missense_variant | 5/12 | 1 | NM_152384.3 | P1 | |
BBS5 | ENST00000392663.6 | c.265C>G | p.Arg89Gly | missense_variant | 5/11 | 1 | |||
BBS5 | ENST00000475571.1 | n.232C>G | non_coding_transcript_exon_variant | 1/2 | 4 | ||||
BBS5 | ENST00000443151.1 | c.149C>G | p.Thr50Arg | missense_variant, NMD_transcript_variant | 3/6 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461292Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726950
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.