5-140786313-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018900.4(PCDHA1):c.23G>T(p.Gly8Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,458,054 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_018900.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PCDHA1 | NM_018900.4 | c.23G>T | p.Gly8Val | missense_variant | Exon 1 of 4 | ENST00000504120.4 | NP_061723.1 | |
PCDHA1 | NM_031410.2 | c.23G>T | p.Gly8Val | missense_variant | Exon 1 of 1 | NP_113598.1 | ||
PCDHA1 | NM_031411.3 | c.23G>T | p.Gly8Val | missense_variant | Exon 1 of 4 | NP_113599.1 | ||
PCDHA@ | n.140786313G>T | intragenic_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PCDHA1 | ENST00000504120.4 | c.23G>T | p.Gly8Val | missense_variant | Exon 1 of 4 | 1 | NM_018900.4 | ENSP00000420840.3 | ||
PCDHA1 | ENST00000394633.7 | c.23G>T | p.Gly8Val | missense_variant | Exon 1 of 4 | 1 | ENSP00000378129.3 | |||
PCDHA1 | ENST00000378133.4 | c.23G>T | p.Gly8Val | missense_variant | Exon 1 of 1 | 6 | ENSP00000367373.3 | |||
ENSG00000279726 | ENST00000655235.1 | n.3199C>A | non_coding_transcript_exon_variant | Exon 2 of 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1458054Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 725148
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.