8-71653921-C-T

Variant names:

• chr8-71653921-C-T
• rs1364617

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 0.438 in 151,982 control chromosomes in the GnomAD database, including 16,273 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 0.44 (16273 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.828

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.553 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: 0.438 AC: 66563 AN: 151864 Hom.: 16277 Cov.: 31

Gnomad AFR AF: 0.217

Gnomad AMI AF: 0.718

Gnomad AMR AF: 0.440

Gnomad ASJ AF: 0.478

Gnomad EAS AF: 0.528

Gnomad SAS AF: 0.266

Gnomad FIN AF: 0.536

Gnomad MID AF: 0.366

Gnomad NFE AF: 0.558

Gnomad OTH AF: 0.419

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

GnomAD4 genome AF: 0.438 AC: 66577 AN: 151982 Hom.: 16273 Cov.: 31 AF XY: 0.434 AC XY: 32200 AN XY: 74254

Gnomad4 AFR AF: 0.217

Gnomad4 AMR AF: 0.439

Gnomad4 ASJ AF: 0.478

Gnomad4 EAS AF: 0.528

Gnomad4 SAS AF: 0.267

Gnomad4 FIN AF: 0.536

Gnomad4 NFE AF: 0.558

Gnomad4 OTH AF: 0.420

Alfa AF: 0.516 Hom.: 4267

Bravo AF: 0.427

Asia WGS AF: 0.382 AC: 1326 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	6.6
DANN	Benign	0.41

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1364617; hg19: chr8-72566156;