chr9-33385752-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_001170.3(AQP7):c.640G>A(p.Gly214Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00011 in 1,613,676 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001170.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000920 AC: 14AN: 152192Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.000112 AC: 163AN: 1461484Hom.: 1 Cov.: 33 AF XY: 0.0000949 AC XY: 69AN XY: 727036
GnomAD4 genome AF: 0.0000920 AC: 14AN: 152192Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74348
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 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at