rs5443
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_002075.4(GNB3):c.825C>T(p.Ser275=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.337 in 1,613,364 control chromosomes in the GnomAD database, including 100,362 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Synonymous variant affecting the same amino acid position (i.e. S275S) has been classified as Likely benign.
Frequency
Consequence
NM_002075.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GNB3 | NM_002075.4 | c.825C>T | p.Ser275= | synonymous_variant | 9/10 | ENST00000229264.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GNB3 | ENST00000229264.8 | c.825C>T | p.Ser275= | synonymous_variant | 9/10 | 5 | NM_002075.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.439 AC: 66665AN: 151972Hom.: 17391 Cov.: 32
GnomAD3 exomes AF: 0.357 AC: 89686AN: 251406Hom.: 18076 AF XY: 0.347 AC XY: 47203AN XY: 135908
GnomAD4 exome AF: 0.326 AC: 476344AN: 1461274Hom.: 82938 Cov.: 35 AF XY: 0.325 AC XY: 236257AN XY: 726988
GnomAD4 genome AF: 0.439 AC: 66758AN: 152090Hom.: 17424 Cov.: 32 AF XY: 0.434 AC XY: 32272AN XY: 74342
ClinVar
Submissions by phenotype
not provided Benign:3
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jan 31, 2024 | - - |
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | Mar 14, 2018 | 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. - |
Congenital stationary night blindness 1H Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Aug 10, 2021 | - - |
GNB3 POLYMORPHISM Benign:1
Benign, no assertion criteria provided | literature only | OMIM | Apr 01, 2003 | - - |
GNB3-related condition Benign:1
Benign, no assertion criteria provided | clinical testing | PreventionGenetics, part of Exact Sciences | Jun 24, 2024 | 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). - |
Hypertension, essential, susceptibility to Other:1
risk factor, no assertion criteria provided | literature only | OMIM | Apr 01, 2003 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at