20-41137855-G-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_002660.3(PLCG1):c.214G>A(p.Ala72Thr) variant causes a missense change. The variant allele was found at a frequency of 0.000274 in 1,277,842 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002660.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000132 AC: 20AN: 152086Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.000294 AC: 331AN: 1125644Hom.: 0 Cov.: 30 AF XY: 0.000293 AC XY: 157AN XY: 535652
GnomAD4 genome AF: 0.000125 AC: 19AN: 152198Hom.: 0 Cov.: 32 AF XY: 0.0000941 AC XY: 7AN XY: 74416
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.214G>A (p.A72T) alteration is located in exon 1 (coding exon 1) of the PLCG1 gene. This alteration results from a G to A substitution at nucleotide position 214, causing the alanine (A) at amino acid position 72 to be replaced by a threonine (T). 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