rs9328430

Positions:

• chr6-7535949-C-A
• chr6-7535949-C-T

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 0.551 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

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 = 0.631 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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

Gnomad4 AFR AF: 0.638

Gnomad4 AMR AF: 0.563

Gnomad4 ASJ AF: 0.666

Gnomad4 EAS AF: 0.312

Gnomad4 SAS AF: 0.495

Gnomad4 FIN AF: 0.502

Gnomad4 NFE AF: 0.520

Gnomad4 OTH AF: 0.541

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9328430; hg19: chr6-7536182;