chr6-32769730-G-A

Variant names:

• chr6-32769730-G-A
• rs9368741

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 0.299 in 151,820 control chromosomes in the GnomAD database, including 7,439 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 0.30 (7439 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.294
• Publications: 20 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.71).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.399 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: 0.300 AC: 45437 AN: 151702 Hom.: 7441 Cov.: 31

Gnomad AFR AF: 0.182

Gnomad AMI AF: 0.606

Gnomad AMR AF: 0.345

Gnomad ASJ AF: 0.283

Gnomad EAS AF: 0.415

Gnomad SAS AF: 0.347

Gnomad FIN AF: 0.475

Gnomad MID AF: 0.326

Gnomad NFE AF: 0.319

Gnomad OTH AF: 0.280

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

GnomAD4 genome AF: 0.299 AC: 45464 AN: 151820 Hom.: 7439 Cov.: 31 AF XY: 0.308 AC XY: 22804 AN XY: 74146

African (AFR) AF: 0.182 AC: 7564 AN: 41452

American (AMR) AF: 0.345 AC: 5260 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.283 AC: 980 AN: 3466

East Asian (EAS) AF: 0.414 AC: 2133 AN: 5152

South Asian (SAS) AF: 0.346 AC: 1661 AN: 4804

European-Finnish (FIN) AF: 0.475 AC: 4982 AN: 10486

Middle Eastern (MID) AF: 0.337 AC: 99 AN: 294

European-Non Finnish (NFE) AF: 0.319 AC: 21635 AN: 67888

Other (OTH) AF: 0.286 AC: 602 AN: 2108

Alfa AF: 0.252 Hom.: 3277

Bravo AF: 0.287

Asia WGS AF: 0.372 AC: 1292 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.71
CADD	Benign	3.6
DANN	Benign	0.78
PhyloP100		0.29

Splicing

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

Other links and lift over

dbSNP: rs9368741; hg19: chr6-32737507;