20-9307876-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4BS1_Supporting
The NM_001377142.1(PLCB4):c.62C>A(p.Ala21Glu) variant causes a missense change. The variant allele was found at a frequency of 0.000363 in 1,510,636 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A21T) has been classified as Benign.
Frequency
Consequence
NM_001377142.1 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PLCB4 | NM_001377142.1 | c.62C>A | p.Ala21Glu | missense_variant | 4/40 | ENST00000378473.9 | NP_001364071.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PLCB4 | ENST00000378473.9 | c.62C>A | p.Ala21Glu | missense_variant | 4/40 | 1 | NM_001377142.1 | ENSP00000367734.5 |
Frequencies
GnomAD3 genomes AF: 0.000132 AC: 20AN: 152088Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000137 AC: 34AN: 247672Hom.: 0 AF XY: 0.000164 AC XY: 22AN XY: 133880
GnomAD4 exome AF: 0.000389 AC: 529AN: 1358548Hom.: 1 Cov.: 22 AF XY: 0.000352 AC XY: 240AN XY: 681498
GnomAD4 genome AF: 0.000132 AC: 20AN: 152088Hom.: 0 Cov.: 32 AF XY: 0.000162 AC XY: 12AN XY: 74294
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 17, 2021 | The c.62C>A (p.A21E) alteration is located in exon 1 (coding exon 1) of the PLCB4 gene. This alteration results from a C to A substitution at nucleotide position 62, causing the alanine (A) at amino acid position 21 to be replaced by a glutamic acid (E). 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