rs7843085

Positions:

• chr8-33258026-G-A
• chr8-33258026-G-C
• chr8-33258026-G-T

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 0.397 in 151,988 control chromosomes in the GnomAD database, including 13,050 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 (13050 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.605

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.8 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: 0.397 AC: 60295 AN: 151870 Hom.: 13033 Cov.: 32

Gnomad AFR AF: 0.456

Gnomad AMI AF: 0.467

Gnomad AMR AF: 0.476

Gnomad ASJ AF: 0.329

Gnomad EAS AF: 0.820

Gnomad SAS AF: 0.596

Gnomad FIN AF: 0.277

Gnomad MID AF: 0.449

Gnomad NFE AF: 0.318

Gnomad OTH AF: 0.403

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

GnomAD4 genome AF: 0.397 AC: 60350 AN: 151988 Hom.: 13050 Cov.: 32 AF XY: 0.401 AC XY: 29823 AN XY: 74298

Gnomad4 AFR AF: 0.457

Gnomad4 AMR AF: 0.476

Gnomad4 ASJ AF: 0.329

Gnomad4 EAS AF: 0.820

Gnomad4 SAS AF: 0.594

Gnomad4 FIN AF: 0.277

Gnomad4 NFE AF: 0.318

Gnomad4 OTH AF: 0.400

Alfa AF: 0.332 Hom.: 12619

Bravo AF: 0.415

Asia WGS AF: 0.700 AC: 2431 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.80
DANN	Benign	0.42

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7843085; hg19: chr8-33115544;