rs9276448

Variant names:

• chr6-32747852-A-G
• rs9276448

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 0.119 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
• Publications: 11 publications found

ACMG classification

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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

African (AFR) AF: 0.252 AC: 10404 AN: 41352

American (AMR) AF: 0.132 AC: 1984 AN: 15058

Ashkenazi Jewish (ASJ) AF: 0.0786 AC: 271 AN: 3446

East Asian (EAS) AF: 0.00627 AC: 28 AN: 4464

South Asian (SAS) AF: 0.0153 AC: 73 AN: 4768

European-Finnish (FIN) AF: 0.00538 AC: 56 AN: 10406

Middle Eastern (MID) AF: 0.0345 AC: 10 AN: 290

European-Non Finnish (NFE) AF: 0.0690 AC: 4596 AN: 66626

Other (OTH) AF: 0.151 AC: 310 AN: 2058

Alfa AF: 0.142 Hom.: 841

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
PhyloP100		-0.34

Splicing

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

Other links and lift over

dbSNP: rs9276448; hg19: chr6-32715629;