3-189957700-AAGAGAGAGAG-AAGAGAGAGAGAGAGAGAGAGAG

Variant names:

• chr3-189957700-A-AAGAGAGAGAGAG
• rs3062112
• ENST00000319332:c.*200_*211dupCTCTCTCTCTCT

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The NM_018192.4(P3H2):​c.*200_*211dupCTCTCTCTCTCT variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 0.0021 (0 hom., cov: 0)
  • Exomes 𝑓: 0.0018 (0 hom.)
• Consequence: P3H2 NM_018192.4 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.38

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]

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
P3H2	NM_018192.4	c.*200_*211dupCTCTCTCTCTCT		3_prime_UTR_variant	Exon 15 of 15	ENST00000319332.10	NP_060662.2
P3H2	NM_001134418.2	c.*200_*211dupCTCTCTCTCTCT		3_prime_UTR_variant	Exon 15 of 15		NP_001127890.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
P3H2	ENST00000319332	c.*200_*211dupCTCTCTCTCTCT		3_prime_UTR_variant	Exon 15 of 15	1	NM_018192.4	ENSP00000316881.5
P3H2	ENST00000427335	c.*200_*211dupCTCTCTCTCTCT		3_prime_UTR_variant	Exon 15 of 15	1		ENSP00000408947.2
P3H2	ENST00000490940.1	n.457_468dupCTCTCTCTCTCT		non_coding_transcript_exon_variant	Exon 2 of 2	2

Frequencies

GnomAD3 genomes AF: 0.00212 AC: 313 AN: 147496 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.00127

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00163

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.000805

Gnomad SAS AF: 0.000661

Gnomad FIN AF: 0.000205

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00340

Gnomad OTH AF: 0.000990

GnomAD4 exome AF: 0.00183 AC: 725 AN: 395686 Hom.: 0 Cov.: 0 AF XY: 0.00176 AC XY: 375 AN XY: 212604

Gnomad4 AFR exome AF: 0.000890

Gnomad4 AMR exome AF: 0.00106

Gnomad4 ASJ exome AF: 0.000170

Gnomad4 EAS exome AF: 0.00123

Gnomad4 SAS exome AF: 0.000668

Gnomad4 FIN exome AF: 0.000256

Gnomad4 NFE exome AF: 0.00247

Gnomad4 OTH exome AF: 0.00165

GnomAD4 genome AF: 0.00213 AC: 315 AN: 147606 Hom.: 0 Cov.: 0 AF XY: 0.00183 AC XY: 131 AN XY: 71706

Gnomad4 AFR AF: 0.00132

Gnomad4 AMR AF: 0.00163

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.000807

Gnomad4 SAS AF: 0.000662

Gnomad4 FIN AF: 0.000205

Gnomad4 NFE AF: 0.00340

Gnomad4 OTH AF: 0.000980

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs3062112; hg19: chr3-189675489;