X-2830166-C-G
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_001079855.2(GYG2):c.-23C>G variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000323 in 1,206,841 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 8 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 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000177 AC: 20AN: 112779Hom.: 0 Cov.: 24 AF XY: 0.000115 AC XY: 4AN XY: 34923
GnomAD3 exomes AF: 0.0000277 AC: 5AN: 180534Hom.: 0 AF XY: 0.0000303 AC XY: 2AN XY: 66106
GnomAD4 exome AF: 0.0000174 AC: 19AN: 1094010Hom.: 0 Cov.: 27 AF XY: 0.0000111 AC XY: 4AN XY: 359670
GnomAD4 genome AF: 0.000177 AC: 20AN: 112831Hom.: 0 Cov.: 24 AF XY: 0.000114 AC XY: 4AN XY: 34985
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