9-75932386-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001372043.1(PCSK5):c.200C>T(p.Ala67Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000357 in 1,597,160 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 Uncertain significance (★).
Frequency
Consequence
NM_001372043.1 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PCSK5 | NM_001372043.1 | c.200C>T | p.Ala67Val | missense_variant | Exon 2 of 38 | ENST00000674117.1 | NP_001358972.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PCSK5 | ENST00000674117.1 | c.200C>T | p.Ala67Val | missense_variant | Exon 2 of 38 | NM_001372043.1 | ENSP00000500971.1 | |||
PCSK5 | ENST00000376752.9 | c.200C>T | p.Ala67Val | missense_variant | Exon 2 of 21 | 1 | ENSP00000365943.4 | |||
PCSK5 | ENST00000545128.5 | c.200C>T | p.Ala67Val | missense_variant | Exon 2 of 37 | 5 | ENSP00000446280.1 | |||
PCSK5 | ENST00000376767.7 | n.712C>T | non_coding_transcript_exon_variant | Exon 2 of 14 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152114Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000200 AC: 5AN: 249818Hom.: 0 AF XY: 0.00000741 AC XY: 1AN XY: 135032
GnomAD4 exome AF: 0.0000353 AC: 51AN: 1445046Hom.: 0 Cov.: 27 AF XY: 0.0000250 AC XY: 18AN XY: 720104
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152114Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74302
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.200C>T (p.A67V) alteration is located in exon 2 (coding exon 2) of the PCSK5 gene. This alteration results from a C to T substitution at nucleotide position 200, causing the alanine (A) at amino acid position 67 to be replaced by a valine (V). 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