chr7-18647919-A-T
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_178425.4(HDAC9):c.1170A>T(p.Pro390Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0121 in 1,612,834 control chromosomes in the GnomAD database, including 209 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_178425.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0113 AC: 1718AN: 152180Hom.: 25 Cov.: 33
GnomAD3 exomes AF: 0.0119 AC: 2932AN: 246840Hom.: 41 AF XY: 0.0119 AC XY: 1592AN XY: 133930
GnomAD4 exome AF: 0.0121 AC: 17728AN: 1460536Hom.: 184 Cov.: 31 AF XY: 0.0119 AC XY: 8619AN XY: 726498
GnomAD4 genome AF: 0.0113 AC: 1716AN: 152298Hom.: 25 Cov.: 33 AF XY: 0.0131 AC XY: 973AN XY: 74468
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