chr17-82831592-G-A
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BA1
The NM_024702.3(ZNF750):c.863C>T(p.Pro288Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0902 in 1,614,130 control chromosomes in the GnomAD database, including 7,861 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_024702.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0694 AC: 10564AN: 152120Hom.: 561 Cov.: 32
GnomAD3 exomes AF: 0.0685 AC: 17232AN: 251484Hom.: 936 AF XY: 0.0683 AC XY: 9282AN XY: 135914
GnomAD4 exome AF: 0.0924 AC: 135070AN: 1461892Hom.: 7301 Cov.: 37 AF XY: 0.0901 AC XY: 65561AN XY: 727246
GnomAD4 genome AF: 0.0694 AC: 10562AN: 152238Hom.: 560 Cov.: 32 AF XY: 0.0692 AC XY: 5149AN XY: 74436
ClinVar
Submissions by phenotype
ZNF750-related disorder Benign:1
Benign, no assertion criteria provided | clinical testing | PreventionGenetics, part of Exact Sciences | Feb 20, 2020 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at