rs9276615

Variant names:

• chr6-32775440-C-T
• rs9276615

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 0.705 in 151,744 control chromosomes in the GnomAD database, including 37,806 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 0.70 (37806 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0610
• Publications: 22 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.798 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: 0.705 AC: 106859 AN: 151626 Hom.: 37788 Cov.: 31

Gnomad AFR AF: 0.667

Gnomad AMI AF: 0.773

Gnomad AMR AF: 0.701

Gnomad ASJ AF: 0.750

Gnomad EAS AF: 0.757

Gnomad SAS AF: 0.820

Gnomad FIN AF: 0.788

Gnomad MID AF: 0.799

Gnomad NFE AF: 0.700

Gnomad OTH AF: 0.706

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

GnomAD4 genome AF: 0.705 AC: 106919 AN: 151744 Hom.: 37806 Cov.: 31 AF XY: 0.710 AC XY: 52676 AN XY: 74168

African (AFR) AF: 0.667 AC: 27580 AN: 41362

American (AMR) AF: 0.701 AC: 10698 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.750 AC: 2598 AN: 3466

East Asian (EAS) AF: 0.757 AC: 3896 AN: 5146

South Asian (SAS) AF: 0.819 AC: 3945 AN: 4816

European-Finnish (FIN) AF: 0.788 AC: 8296 AN: 10522

Middle Eastern (MID) AF: 0.801 AC: 234 AN: 292

European-Non Finnish (NFE) AF: 0.700 AC: 47482 AN: 67862

Other (OTH) AF: 0.708 AC: 1490 AN: 2104

Alfa AF: 0.704 Hom.: 97915

Bravo AF: 0.693

Asia WGS AF: 0.800 AC: 2784 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	5.5
DANN	Benign	0.55
PhyloP100		0.061

Splicing

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

Other links and lift over

dbSNP: rs9276615; hg19: chr6-32743217;