rs782536726
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_018908.3(PCDHA5):c.286C>A(p.Arg96Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000342 in 1,461,846 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_018908.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PCDHA5 | NM_018908.3 | c.286C>A | p.Arg96Arg | synonymous_variant | Exon 1 of 4 | ENST00000529859.2 | NP_061731.1 | |
PCDHA1 | NM_018900.4 | c.2394+33377C>A | intron_variant | Intron 1 of 3 | ENST00000504120.4 | NP_061723.1 | ||
PCDHA3 | NM_018906.3 | c.2394+18470C>A | intron_variant | Intron 1 of 3 | ENST00000522353.3 | NP_061729.1 | ||
PCDHA2 | NM_018905.3 | c.2388+24709C>A | intron_variant | Intron 1 of 3 | ENST00000526136.2 | NP_061728.1 | ||
PCDHA4 | NM_018907.4 | c.2385+12489C>A | intron_variant | Intron 1 of 3 | ENST00000530339.2 | NP_061730.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PCDHA5 | ENST00000529859.2 | c.286C>A | p.Arg96Arg | synonymous_variant | Exon 1 of 4 | 1 | NM_018908.3 | ENSP00000436557.1 | ||
PCDHA1 | ENST00000504120.4 | c.2394+33377C>A | intron_variant | Intron 1 of 3 | 1 | NM_018900.4 | ENSP00000420840.3 | |||
PCDHA3 | ENST00000522353.3 | c.2394+18470C>A | intron_variant | Intron 1 of 3 | 1 | NM_018906.3 | ENSP00000429808.2 | |||
PCDHA2 | ENST00000526136.2 | c.2388+24709C>A | intron_variant | Intron 1 of 3 | 1 | NM_018905.3 | ENSP00000431748.1 | |||
PCDHA4 | ENST00000530339.2 | c.2385+12489C>A | intron_variant | Intron 1 of 3 | 1 | NM_018907.4 | ENSP00000435300.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251390Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135884
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461846Hom.: 0 Cov.: 35 AF XY: 0.00000413 AC XY: 3AN XY: 727216
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at