X-102654696-C-G
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_001184727.2(GPRASP1):c.783C>G(p.Pro261Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000168 in 1,209,925 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 69 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001184727.2 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000187 AC: 21AN: 112122Hom.: 0 Cov.: 23 AF XY: 0.000146 AC XY: 5AN XY: 34302
GnomAD3 exomes AF: 0.000196 AC: 36AN: 183289Hom.: 0 AF XY: 0.000221 AC XY: 15AN XY: 67803
GnomAD4 exome AF: 0.000166 AC: 182AN: 1097747Hom.: 0 Cov.: 30 AF XY: 0.000176 AC XY: 64AN XY: 363101
GnomAD4 genome AF: 0.000187 AC: 21AN: 112178Hom.: 0 Cov.: 23 AF XY: 0.000145 AC XY: 5AN XY: 34368
ClinVar
Submissions by phenotype
not provided Benign:1
GPRASP1: BP4, BP7, BS2 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at