22-19802018-A-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_053004.3(GNB1L):c.715T>G(p.Trp239Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.133 in 1,593,300 control chromosomes in the GnomAD database, including 19,065 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_053004.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GNB1L | NM_053004.3 | c.715T>G | p.Trp239Gly | missense_variant | 7/8 | ENST00000329517.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GNB1L | ENST00000329517.11 | c.715T>G | p.Trp239Gly | missense_variant | 7/8 | 1 | NM_053004.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.120 AC: 18259AN: 152184Hom.: 1742 Cov.: 33
GnomAD3 exomes AF: 0.176 AC: 37855AN: 215230Hom.: 4736 AF XY: 0.174 AC XY: 20256AN XY: 116554
GnomAD4 exome AF: 0.134 AC: 193182AN: 1440998Hom.: 17320 Cov.: 33 AF XY: 0.137 AC XY: 97822AN XY: 715238
GnomAD4 genome ? AF: 0.120 AC: 18270AN: 152302Hom.: 1745 Cov.: 33 AF XY: 0.125 AC XY: 9307AN XY: 74470
ClinVar
Submissions by phenotype
GNB1L-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 21, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at