rs1553425452
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM1PM2PP3_Strong
The ENST00000234071.8(PROC):c.1213C>G(p.Pro405Ala) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P405S) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000234071.8 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PROC | NM_000312.4 | c.1213C>G | p.Pro405Ala | missense_variant | 9/9 | ENST00000234071.8 | NP_000303.1 | |
LOC105373608 | XR_007087228.1 | n.1041-509G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PROC | ENST00000234071.8 | c.1213C>G | p.Pro405Ala | missense_variant | 9/9 | 1 | NM_000312.4 | ENSP00000234071 | P1 | |
PROC | ENST00000409048.1 | c.1315C>G | p.Pro439Ala | missense_variant | 7/7 | 5 | ENSP00000386679 | |||
PROC | ENST00000402125.2 | c.538C>G | p.Pro180Ala | missense_variant | 2/2 | 2 | ENSP00000384225 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at