rs9363864

Variant names:

• chr6-68182664-G-A
• rs9363864

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The variant allele was found at a frequency of 0.35 in 151,864 control chromosomes in the GnomAD database, including 11,110 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 0.35 (11110 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.10

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.29).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.515 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: 0.350 AC: 53118 AN: 151746 Hom.: 11108 Cov.: 32

Gnomad AFR AF: 0.103

Gnomad AMI AF: 0.432

Gnomad AMR AF: 0.406

Gnomad ASJ AF: 0.451

Gnomad EAS AF: 0.532

Gnomad SAS AF: 0.329

Gnomad FIN AF: 0.430

Gnomad MID AF: 0.459

Gnomad NFE AF: 0.455

Gnomad OTH AF: 0.399

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

GnomAD4 genome AF: 0.350 AC: 53121 AN: 151864 Hom.: 11110 Cov.: 32 AF XY: 0.352 AC XY: 26121 AN XY: 74192

Gnomad4 AFR AF: 0.103

Gnomad4 AMR AF: 0.406

Gnomad4 ASJ AF: 0.451

Gnomad4 EAS AF: 0.532

Gnomad4 SAS AF: 0.329

Gnomad4 FIN AF: 0.430

Gnomad4 NFE AF: 0.455

Gnomad4 OTH AF: 0.396

Alfa AF: 0.421 Hom.: 6482

Bravo AF: 0.343

Asia WGS AF: 0.385 AC: 1340 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.29
CADD	Benign	14
DANN	Benign	0.80

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9363864; hg19: chr6-68892556;