rs7829886

Variant names:

• chr8-94485160-T-A
• rs7829886

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 0.298 in 151,966 control chromosomes in the GnomAD database, including 7,085 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 0.30 (7085 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.796
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.488 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: 0.298 AC: 45231 AN: 151848 Hom.: 7079 Cov.: 32

Gnomad AFR AF: 0.291

Gnomad AMI AF: 0.207

Gnomad AMR AF: 0.413

Gnomad ASJ AF: 0.262

Gnomad EAS AF: 0.504

Gnomad SAS AF: 0.304

Gnomad FIN AF: 0.371

Gnomad MID AF: 0.272

Gnomad NFE AF: 0.251

Gnomad OTH AF: 0.321

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

GnomAD4 genome AF: 0.298 AC: 45273 AN: 151966 Hom.: 7085 Cov.: 32 AF XY: 0.307 AC XY: 22817 AN XY: 74240

African (AFR) AF: 0.291 AC: 12066 AN: 41424

American (AMR) AF: 0.414 AC: 6314 AN: 15252

Ashkenazi Jewish (ASJ) AF: 0.262 AC: 909 AN: 3472

East Asian (EAS) AF: 0.504 AC: 2607 AN: 5170

South Asian (SAS) AF: 0.302 AC: 1458 AN: 4822

European-Finnish (FIN) AF: 0.371 AC: 3911 AN: 10546

Middle Eastern (MID) AF: 0.272 AC: 80 AN: 294

European-Non Finnish (NFE) AF: 0.251 AC: 17066 AN: 67968

Other (OTH) AF: 0.320 AC: 674 AN: 2108

Alfa AF: 0.287 Hom.: 800

Bravo AF: 0.304

Asia WGS AF: 0.346 AC: 1202 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	0.18
DANN	Benign	0.76
PhyloP100		-0.80

Splicing

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

Other links and lift over

dbSNP: rs7829886; hg19: chr8-95497388;