chr7-2731405-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_007353.3(GNA12):c.922G>A(p.Val308Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000211 in 1,612,670 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 Uncertain significance (★).
Frequency
Consequence
NM_007353.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000921 AC: 14AN: 151984Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 250818Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135568
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1460686Hom.: 0 Cov.: 32 AF XY: 0.0000110 AC XY: 8AN XY: 726500
GnomAD4 genome AF: 0.0000921 AC: 14AN: 151984Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74226
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.922G>A (p.V308M) alteration is located in exon 4 (coding exon 4) of the GNA12 gene. This alteration results from a G to A substitution at nucleotide position 922, causing the valine (V) at amino acid position 308 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at