chr7-31814781-A-G

Position:

• chr7-31814781-A-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_001191057.4(PDE1C):​c.1813+1143T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.529 in 149,900 control chromosomes in the GnomAD database, including 23,364 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 0.53 (23364 hom., cov: 25)
• Consequence: PDE1C NM_001191057.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.13

Genes affected

PDE1C (HGNC:8776): (phosphodiesterase 1C) This gene encodes an enzyme that belongs to the 3'5'-cyclic nucleotide phosphodiesterase family. Members of this family catalyze hydrolysis of the cyclic nucleotides, cyclic adenosine monophosphate and cyclic guanosine monophosphate, to the corresponding nucleoside 5'-monophosphates. The enzyme encoded by this gene regulates proliferation and migration of vascular smooth muscle cells, and neointimal hyperplasia. This enzyme also plays a role in pathological vascular remodeling by regulating the stability of growth factor receptors, such as PDGF-receptor-beta. [provided by RefSeq, Jul 2016]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.651 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
PDE1C	NM_001191057.4	c.1813+1143T>C		intron_variant		ENST00000396191.6	NP_001177986.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
PDE1C	ENST00000396191.6	c.1813+1143T>C		intron_variant		2	NM_001191057.4	ENSP00000379494	A1

Frequencies

GnomAD3 genomes AF: 0.529 AC: 79232 AN: 149780 Hom.: 23354 Cov.: 25

Gnomad AFR AF: 0.248

Gnomad AMI AF: 0.686

Gnomad AMR AF: 0.600

Gnomad ASJ AF: 0.537

Gnomad EAS AF: 0.536

Gnomad SAS AF: 0.523

Gnomad FIN AF: 0.681

Gnomad MID AF: 0.443

Gnomad NFE AF: 0.657

Gnomad OTH AF: 0.540

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.529 AC: 79254 AN: 149900 Hom.: 23364 Cov.: 25 AF XY: 0.532 AC XY: 38817 AN XY: 72984

Gnomad4 AFR AF: 0.247

Gnomad4 AMR AF: 0.601

Gnomad4 ASJ AF: 0.537

Gnomad4 EAS AF: 0.537

Gnomad4 SAS AF: 0.523

Gnomad4 FIN AF: 0.681

Gnomad4 NFE AF: 0.657

Gnomad4 OTH AF: 0.538

Alfa AF: 0.599 Hom.: 15524

Bravo AF: 0.512

Asia WGS AF: 0.548 AC: 1903 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.72
DANN	Benign	0.43

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Publications

LitVar

Other links and lift over

dbSNP: rs10247918; hg19: chr7-31854395;