8-64596658-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_004820.5(CYP7B1):āc.1505A>Gā(p.Tyr502Cys) variant causes a missense change. The variant allele was found at a frequency of 0.00000274 in 1,460,606 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_004820.5 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CYP7B1 | NM_004820.5 | c.1505A>G | p.Tyr502Cys | missense_variant | Exon 6 of 6 | ENST00000310193.4 | NP_004811.1 | |
CYP7B1 | XM_017014002.2 | c.1571A>G | p.Tyr524Cys | missense_variant | Exon 7 of 7 | XP_016869491.1 | ||
CYP7B1 | NM_001324112.2 | c.1234-6814A>G | intron_variant | Intron 5 of 6 | NP_001311041.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249346Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135050
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1460606Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726544
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not provided Uncertain:1
Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at