rs1719596
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_018192.4(P3H2):c.633+338T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.921 in 152,032 control chromosomes in the GnomAD database, including 64,666 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
Genomes: 𝑓 0.92 ( 64666 hom., cov: 30)
Consequence
P3H2
NM_018192.4 intron
NM_018192.4 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.263
Genes affected
P3H2 (HGNC:19317): (prolyl 3-hydroxylase 2) This gene encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing post-translational 3-hydroxylation of proline residues. Mutations in this gene are associated with nonsyndromic severe myopia with cataract and vitreoretinal degeneration, and downregulation of this gene may play a role in breast cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.9).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.971 is higher than 0.05.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
P3H2 | ENST00000319332.10 | c.633+338T>C | intron_variant | Intron 2 of 14 | 1 | NM_018192.4 | ENSP00000316881.5 | |||
P3H2 | ENST00000427335.6 | c.90+338T>C | intron_variant | Intron 2 of 14 | 1 | ENSP00000408947.2 | ||||
P3H2 | ENST00000444866.5 | c.90+338T>C | intron_variant | Intron 2 of 3 | 4 | ENSP00000391374.1 | ||||
P3H2 | ENST00000426003.1 | c.90+338T>C | intron_variant | Intron 2 of 3 | 4 | ENSP00000394326.1 |
Frequencies
GnomAD3 genomes AF: 0.921 AC: 139958AN: 151914Hom.: 64600 Cov.: 30
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.921 AC: 140082AN: 152032Hom.: 64666 Cov.: 30 AF XY: 0.921 AC XY: 68423AN XY: 74318
GnomAD4 genome
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68423
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2970
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3474
ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
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Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at