8-34666892-G-A

Variant names:

• chr8-34666892-G-A
• rs7464104

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 0.527 in 151,936 control chromosomes in the GnomAD database, including 23,654 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 0.53 (23654 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0350
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.52).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.654 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: 0.527 AC: 79981 AN: 151816 Hom.: 23646 Cov.: 32

Gnomad AFR AF: 0.245

Gnomad AMI AF: 0.664

Gnomad AMR AF: 0.597

Gnomad ASJ AF: 0.738

Gnomad EAS AF: 0.469

Gnomad SAS AF: 0.417

Gnomad FIN AF: 0.664

Gnomad MID AF: 0.661

Gnomad NFE AF: 0.659

Gnomad OTH AF: 0.556

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

GnomAD4 genome AF: 0.527 AC: 80015 AN: 151936 Hom.: 23654 Cov.: 32 AF XY: 0.525 AC XY: 39013 AN XY: 74260

African (AFR) AF: 0.245 AC: 10149 AN: 41440

American (AMR) AF: 0.598 AC: 9124 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.738 AC: 2562 AN: 3470

East Asian (EAS) AF: 0.469 AC: 2407 AN: 5132

South Asian (SAS) AF: 0.417 AC: 2010 AN: 4816

European-Finnish (FIN) AF: 0.664 AC: 7015 AN: 10560

Middle Eastern (MID) AF: 0.656 AC: 193 AN: 294

European-Non Finnish (NFE) AF: 0.659 AC: 44784 AN: 67940

Other (OTH) AF: 0.553 AC: 1167 AN: 2110

Alfa AF: 0.531 Hom.: 10835

Bravo AF: 0.515

Asia WGS AF: 0.426 AC: 1485 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.52
CADD	Benign	15
DANN	Benign	0.69
PhyloP100		-0.035

Splicing

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

Other links and lift over

dbSNP: rs7464104; hg19: chr8-34524410;