NM_004820.5:c.501C>G
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_004820.5(CYP7B1):c.501C>G(p.Pro167Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P167P) has been classified as Likely benign.
Frequency
Consequence
NM_004820.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CYP7B1 | NM_004820.5 | c.501C>G | p.Pro167Pro | synonymous_variant | Exon 3 of 6 | ENST00000310193.4 | NP_004811.1 | |
CYP7B1 | NM_001324112.2 | c.501C>G | p.Pro167Pro | synonymous_variant | Exon 3 of 7 | NP_001311041.1 | ||
CYP7B1 | XM_017014002.2 | c.567C>G | p.Pro189Pro | synonymous_variant | Exon 4 of 7 | XP_016869491.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 33
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.