rs16930609

Variant names:

• chr11-14894362-A-C
• rs16930609
• NM_001429699.1:c.2887-4594A>C

Your query was ambiguous. Multiple possible variants found:

• chr11-14894362-A-C
• chr11-14894362-A-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_001429699.1(PDE3B):​c.2887-4594A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.139 in 152,066 control chromosomes in the GnomAD database, including 1,728 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 0.14 (1728 hom., cov: 32)
• Consequence: PDE3B NM_001429699.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.23
• Publications: 7 publications found

Genes affected

PDE3B (HGNC:8779): (phosphodiesterase 3B) Enables 3',5'-cyclic-nucleotide phosphodiesterase activity. Involved in negative regulation of angiogenesis; negative regulation of cell adhesion; and negative regulation of lipid catabolic process. Located in membrane. Part of guanyl-nucleotide exchange factor complex. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.219 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
PDE3B	NM_001429699.1	c.2887-4594A>C		intron_variant	Intron 14 of 14		NP_001416628.1
PDE3B	NM_001429700.1	c.2887-4583A>C		intron_variant	Intron 14 of 14		NP_001416629.1
PDE3B	NR_190763.1	n.3417-4594A>C		intron_variant	Intron 16 of 16
PDE3B	NR_190764.1	n.3162-4594A>C		intron_variant	Intron 15 of 15

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.139 AC: 21134 AN: 151948 Hom.: 1724 Cov.: 32

Gnomad AFR AF: 0.222

Gnomad AMI AF: 0.0373

Gnomad AMR AF: 0.130

Gnomad ASJ AF: 0.174

Gnomad EAS AF: 0.127

Gnomad SAS AF: 0.131

Gnomad FIN AF: 0.134

Gnomad MID AF: 0.184

Gnomad NFE AF: 0.0925

Gnomad OTH AF: 0.131

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

GnomAD4 genome AF: 0.139 AC: 21172 AN: 152066 Hom.: 1728 Cov.: 32 AF XY: 0.142 AC XY: 10549 AN XY: 74338

African (AFR) AF: 0.222 AC: 9217 AN: 41432

American (AMR) AF: 0.130 AC: 1985 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.174 AC: 603 AN: 3470

East Asian (EAS) AF: 0.127 AC: 658 AN: 5176

South Asian (SAS) AF: 0.131 AC: 632 AN: 4810

European-Finnish (FIN) AF: 0.134 AC: 1423 AN: 10586

Middle Eastern (MID) AF: 0.180 AC: 53 AN: 294

European-Non Finnish (NFE) AF: 0.0925 AC: 6291 AN: 67990

Other (OTH) AF: 0.131 AC: 276 AN: 2110

Alfa AF: 0.0529 Hom.: 57

Bravo AF: 0.141

Asia WGS AF: 0.127 AC: 442 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	2.1
DANN	Benign	0.41
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs16930609; hg19: chr11-14915908;