12-57762727-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_000785.4(CYP27B1):c.*415G>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00908 in 273,230 control chromosomes in the GnomAD database, including 59 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_000785.4 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0139 AC: 2115AN: 152134Hom.: 47 Cov.: 33
GnomAD4 exome AF: 0.00302 AC: 365AN: 120978Hom.: 12 Cov.: 0 AF XY: 0.00252 AC XY: 162AN XY: 64358
GnomAD4 genome AF: 0.0139 AC: 2115AN: 152252Hom.: 47 Cov.: 33 AF XY: 0.0136 AC XY: 1009AN XY: 74454
ClinVar
Submissions by phenotype
Vitamin D-dependent rickets, type 1 Benign:1
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at