rs8073903

Variant names:

• chr17-78213673-T-C
• rs8073903

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 0.411 in 151,670 control chromosomes in the GnomAD database, including 13,113 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 0.41 (13113 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.593
• Publications: 16 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.506 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: 0.411 AC: 62294 AN: 151562 Hom.: 13106 Cov.: 31

Gnomad AFR AF: 0.512

Gnomad AMI AF: 0.224

Gnomad AMR AF: 0.412

Gnomad ASJ AF: 0.408

Gnomad EAS AF: 0.242

Gnomad SAS AF: 0.404

Gnomad FIN AF: 0.318

Gnomad MID AF: 0.506

Gnomad NFE AF: 0.379

Gnomad OTH AF: 0.409

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

GnomAD4 genome AF: 0.411 AC: 62332 AN: 151670 Hom.: 13113 Cov.: 31 AF XY: 0.407 AC XY: 30151 AN XY: 74082

African (AFR) AF: 0.512 AC: 21135 AN: 41286

American (AMR) AF: 0.413 AC: 6293 AN: 15254

Ashkenazi Jewish (ASJ) AF: 0.408 AC: 1416 AN: 3468

East Asian (EAS) AF: 0.242 AC: 1247 AN: 5162

South Asian (SAS) AF: 0.402 AC: 1934 AN: 4808

European-Finnish (FIN) AF: 0.318 AC: 3340 AN: 10504

Middle Eastern (MID) AF: 0.493 AC: 145 AN: 294

European-Non Finnish (NFE) AF: 0.379 AC: 25758 AN: 67874

Other (OTH) AF: 0.408 AC: 860 AN: 2110

Alfa AF: 0.393 Hom.: 2435

Bravo AF: 0.421

Asia WGS AF: 0.335 AC: 1165 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.2
DANN	Benign	0.16
PhyloP100		-0.59

Splicing

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

Other links and lift over

dbSNP: rs8073903; hg19: chr17-76209754;