chr20-41166307-A-G
Variant summary
Our verdict is Likely pathogenic. Variant got 7 ACMG points: 7P and 0B. PM2PP2PP3_Strong
The NM_002660.3(PLCG1):c.1913A>G(p.His638Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,832 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_002660.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PLCG1 | NM_002660.3 | c.1913A>G | p.His638Arg | missense_variant | 17/32 | ENST00000685551.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PLCG1 | ENST00000685551.1 | c.1913A>G | p.His638Arg | missense_variant | 17/32 | NM_002660.3 | P3 | ||
PLCG1 | ENST00000373271.5 | c.1913A>G | p.His638Arg | missense_variant | 17/32 | 1 | A1 | ||
PLCG1 | ENST00000244007.7 | c.1913A>G | p.His638Arg | missense_variant | 18/33 | 5 | P3 | ||
PLCG1 | ENST00000465571.2 | n.134A>G | non_coding_transcript_exon_variant | 2/4 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461832Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 727216
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 26, 2024 | The c.1913A>G (p.H638R) alteration is located in exon 17 (coding exon 17) of the PLCG1 gene. This alteration results from a A to G substitution at nucleotide position 1913, causing the histidine (H) at amino acid position 638 to be replaced by an arginine (R). 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
Publications
No publications associated with this variant yet.