chr13-99970413-TGGC-T
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP3BP6_Very_StrongBA1
The NM_033132.5(ZIC5):c.1188_1190delGCC(p.Pro397del) variant causes a disruptive inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.202 in 1,099,906 control chromosomes in the GnomAD database, including 26,305 homozygotes. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_033132.5 disruptive_inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -17 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.372 AC: 45311AN: 121798Hom.: 10139 Cov.: 0
GnomAD3 exomes AF: 0.0131 AC: 796AN: 60812Hom.: 107 AF XY: 0.0114 AC XY: 424AN XY: 37140
GnomAD4 exome AF: 0.180 AC: 176352AN: 978006Hom.: 16146 AF XY: 0.177 AC XY: 82953AN XY: 469078
GnomAD4 genome AF: 0.372 AC: 45384AN: 121900Hom.: 10159 Cov.: 0 AF XY: 0.371 AC XY: 22088AN XY: 59580
ClinVar
Submissions by phenotype
not specified Benign:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at