9-133635393-T-C

Position:

• chr9-133635393-T-C

Variant summary

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

The variant allele was found at a frequency of 0.796 in 151,818 control chromosomes in the GnomAD database, including 48,324 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as not provided (no stars).

• Frequency: Genomes: 𝑓 0.80 (48324 hom., cov: 29)
• Consequence: Unknown
• Clinical Significance: not provided no classification provided O:1
• Conservation: PhyloP100: -3.11

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.821 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.796 AC: 120798 AN: 151700 Hom.: 48284 Cov.: 29

Gnomad AFR AF: 0.829

Gnomad AMI AF: 0.678

Gnomad AMR AF: 0.719

Gnomad ASJ AF: 0.765

Gnomad EAS AF: 0.822

Gnomad SAS AF: 0.781

Gnomad FIN AF: 0.845

Gnomad MID AF: 0.710

Gnomad NFE AF: 0.790

Gnomad OTH AF: 0.781

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

GnomAD4 genome AF: 0.796 AC: 120899 AN: 151818 Hom.: 48324 Cov.: 29 AF XY: 0.798 AC XY: 59198 AN XY: 74184

Gnomad4 AFR AF: 0.829

Gnomad4 AMR AF: 0.720

Gnomad4 ASJ AF: 0.765

Gnomad4 EAS AF: 0.822

Gnomad4 SAS AF: 0.779

Gnomad4 FIN AF: 0.845

Gnomad4 NFE AF: 0.789

Gnomad4 OTH AF: 0.784

Alfa AF: 0.775 Hom.: 37466

Bravo AF: 0.788

Asia WGS AF: 0.817 AC: 2841 AN: 3478

ClinVar

Significance: not provided

Submissions summary: Other:1

Revision: no classification provided

Submissions by phenotype

Orthostatic hypotension 1 Other:1

not provided, no classification provided

literature only

GeneReviews

-

Variant that contributes up to 52% of normal variation in DBH activity [Zabetian et al 2001] -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.3
DANN	Benign	0.35

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1611115; hg19: chr9-136500515;