chr20-41163248-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 1P and 0B. PP2
The NM_002660.3(PLCG1):c.762C>A(p.Phe254Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000148 in 1,553,430 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another nucleotide change resulting in same amino acid change has been previously reported as Uncertain significancein ClinVar.
Frequency
Consequence
NM_002660.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PLCG1 | NM_002660.3 | c.762C>A | p.Phe254Leu | missense_variant | 8/32 | ENST00000685551.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PLCG1 | ENST00000685551.1 | c.762C>A | p.Phe254Leu | missense_variant | 8/32 | NM_002660.3 | P3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 152032Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.0000136 AC: 19AN: 1401398Hom.: 0 Cov.: 31 AF XY: 0.0000159 AC XY: 11AN XY: 691602
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 152032Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74256
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 03, 2023 | The c.762C>A (p.F254L) alteration is located in exon 8 (coding exon 8) of the PLCG1 gene. This alteration results from a C to A substitution at nucleotide position 762, causing the phenylalanine (F) at amino acid position 254 to be replaced by a leucine (L). 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