rs9295768

Variant names:

• chr6-28241324-G-A
• rs9295768

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.204 in 152,066 control chromosomes in the GnomAD database, including 3,595 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 0.20 (3595 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.13

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.3 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: 0.204 AC: 31024 AN: 151948 Hom.: 3583 Cov.: 32

Gnomad AFR AF: 0.305

Gnomad AMI AF: 0.184

Gnomad AMR AF: 0.180

Gnomad ASJ AF: 0.126

Gnomad EAS AF: 0.193

Gnomad SAS AF: 0.172

Gnomad FIN AF: 0.0954

Gnomad MID AF: 0.139

Gnomad NFE AF: 0.174

Gnomad OTH AF: 0.184

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

GnomAD4 genome AF: 0.204 AC: 31066 AN: 152066 Hom.: 3595 Cov.: 32 AF XY: 0.197 AC XY: 14679 AN XY: 74354

Gnomad4 AFR AF: 0.305

Gnomad4 AMR AF: 0.180

Gnomad4 ASJ AF: 0.126

Gnomad4 EAS AF: 0.194

Gnomad4 SAS AF: 0.174

Gnomad4 FIN AF: 0.0954

Gnomad4 NFE AF: 0.174

Gnomad4 OTH AF: 0.182

Alfa AF: 0.174 Hom.: 3157

Bravo AF: 0.217

Asia WGS AF: 0.164 AC: 573 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	5.2
DANN	Benign	0.24

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9295768; hg19: chr6-28209102;