rs9268528

Variant names:

• chr6-32415331-A-G
• rs9268528

Your query was ambiguous. Multiple possible variants found:

• chr6-32415331-A-G
• chr6-32415331-A-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 0.35 in 151,918 control chromosomes in the GnomAD database, including 9,921 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 0.35 (9921 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.782

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.484 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: 0.350 AC: 53167 AN: 151800 Hom.: 9915 Cov.: 31

Gnomad AFR AF: 0.237

Gnomad AMI AF: 0.334

Gnomad AMR AF: 0.426

Gnomad ASJ AF: 0.525

Gnomad EAS AF: 0.476

Gnomad SAS AF: 0.500

Gnomad FIN AF: 0.306

Gnomad MID AF: 0.592

Gnomad NFE AF: 0.379

Gnomad OTH AF: 0.365

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

GnomAD4 genome AF: 0.350 AC: 53192 AN: 151918 Hom.: 9921 Cov.: 31 AF XY: 0.354 AC XY: 26254 AN XY: 74218

Gnomad4 AFR AF: 0.237

Gnomad4 AMR AF: 0.426

Gnomad4 ASJ AF: 0.525

Gnomad4 EAS AF: 0.477

Gnomad4 SAS AF: 0.500

Gnomad4 FIN AF: 0.306

Gnomad4 NFE AF: 0.379

Gnomad4 OTH AF: 0.365

Alfa AF: 0.385 Hom.: 15420

Bravo AF: 0.354

Asia WGS AF: 0.436 AC: 1518 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	2.4
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: rs9268528; hg19: chr6-32383108;