rs7578597
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_022065.5(THADA):āc.3559A>Gā(p.Thr1187Ala) variant causes a missense change. The variant allele was found at a frequency of 0.109 in 1,593,848 control chromosomes in the GnomAD database, including 11,113 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_022065.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.140 AC: 21313AN: 152144Hom.: 1986 Cov.: 32
GnomAD3 exomes AF: 0.0990 AC: 21766AN: 219906Hom.: 1424 AF XY: 0.100 AC XY: 11828AN XY: 117810
GnomAD4 exome AF: 0.106 AC: 153003AN: 1441586Hom.: 9115 Cov.: 30 AF XY: 0.107 AC XY: 76205AN XY: 714672
GnomAD4 genome AF: 0.140 AC: 21364AN: 152262Hom.: 1998 Cov.: 32 AF XY: 0.134 AC XY: 9984AN XY: 74450
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at