15-52184655-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_016194.4(GNB5):c.22G>A(p.Val8Ile) variant causes a missense change. The variant allele was found at a frequency of 0.00364 in 1,613,402 control chromosomes in the GnomAD database, including 14 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_016194.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00239 AC: 363AN: 151972Hom.: 2 Cov.: 33
GnomAD3 exomes AF: 0.00214 AC: 538AN: 251284Hom.: 2 AF XY: 0.00221 AC XY: 300AN XY: 135800
GnomAD4 exome AF: 0.00377 AC: 5509AN: 1461312Hom.: 12 Cov.: 30 AF XY: 0.00366 AC XY: 2661AN XY: 726976
GnomAD4 genome AF: 0.00239 AC: 363AN: 152090Hom.: 2 Cov.: 33 AF XY: 0.00219 AC XY: 163AN XY: 74348
ClinVar
Submissions by phenotype
not provided Benign:3
GNB5: BS2 -
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not specified Benign:1
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GNB5-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Inborn genetic diseases Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at