7-904206-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_006869.4(ADAP1):c.568G>A(p.Gly190Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000372 in 1,611,162 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006869.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152158Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000887 AC: 22AN: 247954Hom.: 0 AF XY: 0.0000817 AC XY: 11AN XY: 134682
GnomAD4 exome AF: 0.0000370 AC: 54AN: 1458886Hom.: 0 Cov.: 32 AF XY: 0.0000386 AC XY: 28AN XY: 725768
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152276Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74452
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.568G>A (p.G190S) alteration is located in exon 6 (coding exon 6) of the ADAP1 gene. This alteration results from a G to A substitution at nucleotide position 568, causing the glycine (G) at amino acid position 190 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at