20-9365473-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 2P and 14B. PM2BP4_ModerateBP6_Very_StrongBS1
The NM_001377142.1(PLCB4):c.462G>A(p.Leu154Leu) variant causes a synonymous change. The variant allele was found at a frequency of 0.000262 in 1,606,242 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 Likely benign (★★).
Frequency
Consequence
NM_001377142.1 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PLCB4 | NM_001377142.1 | c.462G>A | p.Leu154Leu | synonymous_variant | Exon 9 of 40 | ENST00000378473.9 | NP_001364071.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PLCB4 | ENST00000378473.9 | c.462G>A | p.Leu154Leu | synonymous_variant | Exon 9 of 40 | 1 | NM_001377142.1 | ENSP00000367734.5 |
Frequencies
GnomAD3 genomes AF: 0.000315 AC: 48AN: 152162Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000507 AC: 127AN: 250516Hom.: 0 AF XY: 0.000591 AC XY: 80AN XY: 135436
GnomAD4 exome AF: 0.000257 AC: 373AN: 1453962Hom.: 0 Cov.: 27 AF XY: 0.000301 AC XY: 218AN XY: 723866
GnomAD4 genome AF: 0.000315 AC: 48AN: 152280Hom.: 0 Cov.: 32 AF XY: 0.000269 AC XY: 20AN XY: 74448
ClinVar
Submissions by phenotype
Auriculocondylar syndrome 2 Benign:1
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at