rs9276448

Positions:

• chr6-32747852-A-G

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 0.119 in 149,362 control chromosomes in the GnomAD database, including 1,666 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 0.12 (1666 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.342

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.248 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: 0.119 AC: 17767 AN: 149246 Hom.: 1664 Cov.: 32

Gnomad AFR AF: 0.252

Gnomad AMI AF: 0.0470

Gnomad AMR AF: 0.132

Gnomad ASJ AF: 0.0786

Gnomad EAS AF: 0.00648

Gnomad SAS AF: 0.0153

Gnomad FIN AF: 0.00538

Gnomad MID AF: 0.0353

Gnomad NFE AF: 0.0690

Gnomad OTH AF: 0.152

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

GnomAD4 genome AF: 0.119 AC: 17774 AN: 149362 Hom.: 1666 Cov.: 32 AF XY: 0.115 AC XY: 8364 AN XY: 73000

Gnomad4 AFR AF: 0.252

Gnomad4 AMR AF: 0.132

Gnomad4 ASJ AF: 0.0786

Gnomad4 EAS AF: 0.00627

Gnomad4 SAS AF: 0.0153

Gnomad4 FIN AF: 0.00538

Gnomad4 NFE AF: 0.0690

Gnomad4 OTH AF: 0.151

Alfa AF: 0.138 Hom.: 226

Bravo AF: 0.138

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	3.7
DANN	Benign	0.74

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9276448; hg19: chr6-32715629;