rs9328430

Variant names:

• chr6-7535949-C-A
• rs9328430

Your query was ambiguous. Multiple possible variants found:

• chr6-7535949-C-A
• chr6-7535949-C-T

Variant summary

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

The variant allele was found at a frequency of 0.551 in 151,942 control chromosomes in the GnomAD database, including 23,416 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 0.55 (23416 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0790
• Publications: 3 publications found

ACMG classification

Our verdict: Benign. The variant received -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 = 0.631 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: 0.551 AC: 83648 AN: 151822 Hom.: 23404 Cov.: 31

Gnomad AFR AF: 0.638

Gnomad AMI AF: 0.478

Gnomad AMR AF: 0.563

Gnomad ASJ AF: 0.666

Gnomad EAS AF: 0.311

Gnomad SAS AF: 0.494

Gnomad FIN AF: 0.502

Gnomad MID AF: 0.596

Gnomad NFE AF: 0.520

Gnomad OTH AF: 0.543

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

GnomAD4 genome AF: 0.551 AC: 83715 AN: 151942 Hom.: 23416 Cov.: 31 AF XY: 0.549 AC XY: 40760 AN XY: 74272

African (AFR) AF: 0.638 AC: 26412 AN: 41414

American (AMR) AF: 0.563 AC: 8606 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.666 AC: 2307 AN: 3466

East Asian (EAS) AF: 0.312 AC: 1608 AN: 5160

South Asian (SAS) AF: 0.495 AC: 2381 AN: 4808

European-Finnish (FIN) AF: 0.502 AC: 5293 AN: 10544

Middle Eastern (MID) AF: 0.592 AC: 174 AN: 294

European-Non Finnish (NFE) AF: 0.520 AC: 35355 AN: 67950

Other (OTH) AF: 0.541 AC: 1145 AN: 2116

Alfa AF: 0.487 Hom.: 3745

Bravo AF: 0.556

Asia WGS AF: 0.423 AC: 1470 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	2.1
DANN	Benign	0.61
PhyloP100		0.079

Splicing

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

Other links and lift over

dbSNP: rs9328430; hg19: chr6-7536182;