11-74268168-G-C
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The NM_182904.5(P4HA3):c.1541C>G(p.Pro514Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000434 in 1,613,902 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_182904.5 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152188Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0000358 AC: 9AN: 251266 AF XY: 0.0000147 show subpopulations
GnomAD4 exome AF: 0.0000445 AC: 65AN: 1461714Hom.: 0 Cov.: 30 AF XY: 0.0000468 AC XY: 34AN XY: 727172 show subpopulations
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152188Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74344 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1541C>G (p.P514R) alteration is located in exon 12 (coding exon 12) of the P4HA3 gene. This alteration results from a C to G substitution at nucleotide position 1541, causing the proline (P) at amino acid position 514 to be replaced by an arginine (R). 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