rs2275294
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_020713.3(ZNF512B):c.1969-113C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.264 in 1,295,078 control chromosomes in the GnomAD database, including 48,966 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_020713.3 intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.253 AC: 38538AN: 152032Hom.: 5609 Cov.: 34
GnomAD4 exome AF: 0.265 AC: 302780AN: 1142928Hom.: 43352 AF XY: 0.266 AC XY: 148791AN XY: 559624
GnomAD4 genome AF: 0.253 AC: 38557AN: 152150Hom.: 5614 Cov.: 34 AF XY: 0.257 AC XY: 19117AN XY: 74372
ClinVar
Submissions by phenotype
not provided Benign:2
- -
This variant is associated with the following publications: (PMID: 21665992) -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at