20-41164170-A-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_002660.3(PLCG1):āc.1186A>Gā(p.Thr396Ala) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000149 in 1,611,920 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 (ā ).
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
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PLCG1 | ENST00000685551.1 | c.1186A>G | p.Thr396Ala | missense_variant | Exon 12 of 32 | NM_002660.3 | ENSP00000508698.1 | |||
PLCG1 | ENST00000373271.5 | c.1186A>G | p.Thr396Ala | missense_variant | Exon 12 of 32 | 1 | ENSP00000362368.1 | |||
PLCG1 | ENST00000244007.7 | c.1186A>G | p.Thr396Ala | missense_variant | Exon 13 of 33 | 5 | ENSP00000244007.3 |
Frequencies
GnomAD3 genomes AF: 0.0000461 AC: 7AN: 151912Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000716 AC: 18AN: 251422Hom.: 0 AF XY: 0.0000810 AC XY: 11AN XY: 135868
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1460008Hom.: 0 Cov.: 32 AF XY: 0.0000138 AC XY: 10AN XY: 726360
GnomAD4 genome AF: 0.0000461 AC: 7AN: 151912Hom.: 0 Cov.: 31 AF XY: 0.0000404 AC XY: 3AN XY: 74190
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1186A>G (p.T396A) alteration is located in exon 12 (coding exon 12) of the PLCG1 gene. This alteration results from a A to G substitution at nucleotide position 1186, causing the threonine (T) at amino acid position 396 to be replaced by an alanine (A). 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