7-2731264-C-A
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_007353.3(GNA12):c.1063G>T(p.Asp355Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,610 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 149076Hom.: 0 Cov.: 31 FAILED QC
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461610Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727136
GnomAD4 genome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 149076Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 72776
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1063G>T (p.D355Y) alteration is located in exon 4 (coding exon 4) of the GNA12 gene. This alteration results from a G to T substitution at nucleotide position 1063, causing the aspartic acid (D) at amino acid position 355 to be replaced by a tyrosine (Y). 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