rs9276298

Positions:

• chr6-32735244-G-A
• chr6-32735244-G-C

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 0.8 in 152,130 control chromosomes in the GnomAD database, including 48,951 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 0.80 (48951 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0170

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.894 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.800 AC: 121682 AN: 152012 Hom.: 48914 Cov.: 32

Gnomad AFR AF: 0.822

Gnomad AMI AF: 0.816

Gnomad AMR AF: 0.825

Gnomad ASJ AF: 0.842

Gnomad EAS AF: 0.915

Gnomad SAS AF: 0.917

Gnomad FIN AF: 0.770

Gnomad MID AF: 0.851

Gnomad NFE AF: 0.766

Gnomad OTH AF: 0.844

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

GnomAD4 genome AF: 0.800 AC: 121773 AN: 152130 Hom.: 48951 Cov.: 32 AF XY: 0.803 AC XY: 59705 AN XY: 74366

Gnomad4 AFR AF: 0.822

Gnomad4 AMR AF: 0.825

Gnomad4 ASJ AF: 0.842

Gnomad4 EAS AF: 0.915

Gnomad4 SAS AF: 0.917

Gnomad4 FIN AF: 0.770

Gnomad4 NFE AF: 0.766

Gnomad4 OTH AF: 0.847

Alfa AF: 0.776 Hom.: 13425

Bravo AF: 0.803

Asia WGS AF: 0.907 AC: 3152 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	2.8
DANN	Benign	0.62

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9276298; hg19: chr6-32703021;