rs8074072

Variant names:

• chr17-13604552-C-T
• rs8074072

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 0.396 in 151,902 control chromosomes in the GnomAD database, including 15,207 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 0.40 (15207 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0450

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 (AFR) allele frequency at 95% confidence interval = 0.722 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: 0.396 AC: 60038 AN: 151784 Hom.: 15164 Cov.: 32

Gnomad AFR AF: 0.729

Gnomad AMI AF: 0.285

Gnomad AMR AF: 0.240

Gnomad ASJ AF: 0.270

Gnomad EAS AF: 0.213

Gnomad SAS AF: 0.323

Gnomad FIN AF: 0.236

Gnomad MID AF: 0.310

Gnomad NFE AF: 0.281

Gnomad OTH AF: 0.345

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

GnomAD4 genome AF: 0.396 AC: 60139 AN: 151902 Hom.: 15207 Cov.: 32 AF XY: 0.388 AC XY: 28770 AN XY: 74226

Gnomad4 AFR AF: 0.729

Gnomad4 AMR AF: 0.240

Gnomad4 ASJ AF: 0.270

Gnomad4 EAS AF: 0.213

Gnomad4 SAS AF: 0.323

Gnomad4 FIN AF: 0.236

Gnomad4 NFE AF: 0.281

Gnomad4 OTH AF: 0.352

Alfa AF: 0.312 Hom.: 4319

Bravo AF: 0.408

Asia WGS AF: 0.327 AC: 1136 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	5.0
DANN	Benign	0.84

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8074072; hg19: chr17-13507869;