8-64596113-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_ModerateBP6_ModerateBA1
The NM_004820.5(CYP7B1):c.*529A>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0367 in 162,290 control chromosomes in the GnomAD database, including 356 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_004820.5 3_prime_UTR
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CYP7B1 | NM_004820.5 | c.*529A>G | 3_prime_UTR_variant | Exon 6 of 6 | ENST00000310193.4 | NP_004811.1 | ||
CYP7B1 | XM_017014002.2 | c.*529A>G | 3_prime_UTR_variant | Exon 7 of 7 | XP_016869491.1 | |||
CYP7B1 | NM_001324112.2 | c.1234-6269A>G | intron_variant | Intron 5 of 6 | NP_001311041.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0389 AC: 5914AN: 152168Hom.: 355 Cov.: 32
GnomAD4 exome AF: 0.00410 AC: 41AN: 10004Hom.: 1 Cov.: 0 AF XY: 0.00219 AC XY: 14AN XY: 6388
GnomAD4 genome AF: 0.0388 AC: 5916AN: 152286Hom.: 355 Cov.: 32 AF XY: 0.0376 AC XY: 2802AN XY: 74466
ClinVar
Submissions by phenotype
Hereditary spastic paraplegia 5A Benign:1
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at