12-6841567-A-G
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_002075.4(GNB3):c.58-19A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000312 in 1,611,768 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). There are indicators that this mutation may affect the branch point..
Frequency
Consequence
NM_002075.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000210 AC: 32AN: 152080Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000128 AC: 32AN: 249694Hom.: 0 AF XY: 0.000148 AC XY: 20AN XY: 134978
GnomAD4 exome AF: 0.000323 AC: 471AN: 1459688Hom.: 0 Cov.: 30 AF XY: 0.000325 AC XY: 236AN XY: 726120
GnomAD4 genome AF: 0.000210 AC: 32AN: 152080Hom.: 0 Cov.: 32 AF XY: 0.000189 AC XY: 14AN XY: 74260
ClinVar
Submissions by phenotype
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at