chr17-8278949-G-A

Variant names:

• chr17-8278949-G-A
• rs6503096

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 0.744 in 152,126 control chromosomes in the GnomAD database, including 42,958 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 0.74 (42958 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.525

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.817 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: 0.744 AC: 113145 AN: 152008 Hom.: 42930 Cov.: 31

Gnomad AFR AF: 0.677

Gnomad AMI AF: 0.752

Gnomad AMR AF: 0.657

Gnomad ASJ AF: 0.710

Gnomad EAS AF: 0.371

Gnomad SAS AF: 0.725

Gnomad FIN AF: 0.836

Gnomad MID AF: 0.636

Gnomad NFE AF: 0.823

Gnomad OTH AF: 0.728

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

GnomAD4 genome AF: 0.744 AC: 113219 AN: 152126 Hom.: 42958 Cov.: 31 AF XY: 0.741 AC XY: 55149 AN XY: 74376

Gnomad4 AFR AF: 0.678

Gnomad4 AMR AF: 0.656

Gnomad4 ASJ AF: 0.710

Gnomad4 EAS AF: 0.370

Gnomad4 SAS AF: 0.726

Gnomad4 FIN AF: 0.836

Gnomad4 NFE AF: 0.823

Gnomad4 OTH AF: 0.726

Alfa AF: 0.796 Hom.: 71881

Bravo AF: 0.725

Asia WGS AF: 0.578 AC: 2014 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.30
DANN	Benign	0.67

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6503096; hg19: chr17-8182267;