X-13777400-G-C
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_ModerateBP7BS2
The NM_001001995.3(GPM6B):āc.723C>Gā(p.Pro241Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000583 in 1,199,894 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 4 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001001995.3 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000179 AC: 2AN: 111663Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 33895
GnomAD3 exomes AF: 0.0000109 AC: 2AN: 183163Hom.: 0 AF XY: 0.0000148 AC XY: 1AN XY: 67663
GnomAD4 exome AF: 0.00000459 AC: 5AN: 1088231Hom.: 0 Cov.: 27 AF XY: 0.0000113 AC XY: 4AN XY: 354155
GnomAD4 genome AF: 0.0000179 AC: 2AN: 111663Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 33895
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at