rs9271568

Variant names:

• chr6-32622686-G-A
• rs9271568

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 0.274 in 151,868 control chromosomes in the GnomAD database, including 6,080 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 0.27 (6080 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.185

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.338 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: 0.274 AC: 41636 AN: 151750 Hom.: 6077 Cov.: 30

Gnomad AFR AF: 0.203

Gnomad AMI AF: 0.416

Gnomad AMR AF: 0.324

Gnomad ASJ AF: 0.329

Gnomad EAS AF: 0.350

Gnomad SAS AF: 0.256

Gnomad FIN AF: 0.241

Gnomad MID AF: 0.244

Gnomad NFE AF: 0.303

Gnomad OTH AF: 0.274

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

GnomAD4 genome AF: 0.274 AC: 41667 AN: 151868 Hom.: 6080 Cov.: 30 AF XY: 0.272 AC XY: 20169 AN XY: 74216

Gnomad4 AFR AF: 0.203

Gnomad4 AMR AF: 0.325

Gnomad4 ASJ AF: 0.329

Gnomad4 EAS AF: 0.351

Gnomad4 SAS AF: 0.255

Gnomad4 FIN AF: 0.241

Gnomad4 NFE AF: 0.303

Gnomad4 OTH AF: 0.272

Alfa AF: 0.264 Hom.: 623

Bravo AF: 0.285

Asia WGS AF: 0.249 AC: 869 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	8.0
DANN	Benign	0.55

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9271568; hg19: chr6-32590463;