9-75890973-G-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001372043.1(PCSK5):c.-209G>T variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0945 in 410,616 control chromosomes in the GnomAD database, including 3,766 homozygotes. 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_001372043.1 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PCSK5 | ENST00000674117 | c.-209G>T | 5_prime_UTR_premature_start_codon_gain_variant | Exon 1 of 38 | NM_001372043.1 | ENSP00000500971.1 | ||||
PCSK5 | ENST00000674117 | c.-209G>T | 5_prime_UTR_variant | Exon 1 of 38 | NM_001372043.1 | ENSP00000500971.1 |
Frequencies
GnomAD3 genomes AF: 0.139 AC: 21177AN: 152002Hom.: 2737 Cov.: 33
GnomAD4 exome AF: 0.0681 AC: 17607AN: 258500Hom.: 1025 Cov.: 4 AF XY: 0.0656 AC XY: 8657AN XY: 132010
GnomAD4 genome AF: 0.139 AC: 21194AN: 152116Hom.: 2741 Cov.: 33 AF XY: 0.137 AC XY: 10208AN XY: 74372
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at