rs9363693

Variant names:

• chr6-67086440-A-G
• rs9363693

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 0.285 in 151,940 control chromosomes in the GnomAD database, including 6,852 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 0.29 (6852 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.237
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.549 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: 0.285 AC: 43320 AN: 151822 Hom.: 6842 Cov.: 33

Gnomad AFR AF: 0.169

Gnomad AMI AF: 0.282

Gnomad AMR AF: 0.349

Gnomad ASJ AF: 0.300

Gnomad EAS AF: 0.566

Gnomad SAS AF: 0.483

Gnomad FIN AF: 0.349

Gnomad MID AF: 0.291

Gnomad NFE AF: 0.295

Gnomad OTH AF: 0.299

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

GnomAD4 genome AF: 0.285 AC: 43351 AN: 151940 Hom.: 6852 Cov.: 33 AF XY: 0.293 AC XY: 21774 AN XY: 74260

African (AFR) AF: 0.169 AC: 7003 AN: 41476

American (AMR) AF: 0.350 AC: 5333 AN: 15248

Ashkenazi Jewish (ASJ) AF: 0.300 AC: 1042 AN: 3468

East Asian (EAS) AF: 0.566 AC: 2914 AN: 5148

South Asian (SAS) AF: 0.484 AC: 2336 AN: 4826

European-Finnish (FIN) AF: 0.349 AC: 3678 AN: 10548

Middle Eastern (MID) AF: 0.276 AC: 81 AN: 294

European-Non Finnish (NFE) AF: 0.295 AC: 20063 AN: 67916

Other (OTH) AF: 0.306 AC: 644 AN: 2104

Alfa AF: 0.289 Hom.: 834

Bravo AF: 0.277

Asia WGS AF: 0.527 AC: 1833 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	3.8
DANN	Benign	0.33
PhyloP100		0.24

Splicing

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

Other links and lift over

dbSNP: rs9363693; hg19: chr6-67796333;