17-9918059-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_201433.2(GAS7):c.1259G>A(p.Arg420Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000316 in 1,613,860 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_201433.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000788 AC: 12AN: 152226Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000558 AC: 14AN: 251058Hom.: 0 AF XY: 0.0000590 AC XY: 8AN XY: 135708
GnomAD4 exome AF: 0.0000267 AC: 39AN: 1461634Hom.: 0 Cov.: 30 AF XY: 0.0000330 AC XY: 24AN XY: 727142
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152226Hom.: 0 Cov.: 34 AF XY: 0.0000672 AC XY: 5AN XY: 74364
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1259G>A (p.R420Q) alteration is located in exon 13 (coding exon 13) of the GAS7 gene. This alteration results from a G to A substitution at nucleotide position 1259, causing the arginine (R) at amino acid position 420 to be replaced by a glutamine (Q). 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