7-155070978-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_024012.4(HTR5A):āc.79G>Cā(p.Asp27His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000206 in 1,459,246 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars).
Frequency
Consequence
NM_024012.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000801 AC: 2AN: 249630Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135132
GnomAD4 exome AF: 0.0000206 AC: 30AN: 1459246Hom.: 0 Cov.: 35 AF XY: 0.0000165 AC XY: 12AN XY: 726070
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Malignant tumor of prostate Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at