9-133635393-T-C

Variant names:

• chr9-133635393-T-C
• rs1611115

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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	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

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GeneReviews

Significance: not provided

Review Status: no classification provided

Collection Method: literature only

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;