X-2843236-C-T
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_001079855.2(GYG2):c.31C>T(p.Leu11Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000332 in 1,203,329 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 2 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_001079855.2 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: 0.0000269 AC: 3AN: 111680Hom.: 0 Cov.: 22 AF XY: 0.0000591 AC XY: 2AN XY: 33836
GnomAD4 exome AF: 9.16e-7 AC: 1AN: 1091649Hom.: 0 Cov.: 28 AF XY: 0.00 AC XY: 0AN XY: 357321
GnomAD4 genome AF: 0.0000269 AC: 3AN: 111680Hom.: 0 Cov.: 22 AF XY: 0.0000591 AC XY: 2AN XY: 33836
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at