8-11587007-G-A

Variant names:

• chr8-11587007-G-A
• rs10097870

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 0.539 in 152,028 control chromosomes in the GnomAD database, including 23,115 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 0.54 (23115 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.853
• Publications: 16 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.968 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: 0.539 AC: 81857 AN: 151910 Hom.: 23086 Cov.: 32

Gnomad AFR AF: 0.544

Gnomad AMI AF: 0.626

Gnomad AMR AF: 0.640

Gnomad ASJ AF: 0.357

Gnomad EAS AF: 0.991

Gnomad SAS AF: 0.697

Gnomad FIN AF: 0.608

Gnomad MID AF: 0.434

Gnomad NFE AF: 0.465

Gnomad OTH AF: 0.525

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

GnomAD4 genome AF: 0.539 AC: 81931 AN: 152028 Hom.: 23115 Cov.: 32 AF XY: 0.553 AC XY: 41075 AN XY: 74326

African (AFR) AF: 0.544 AC: 22561 AN: 41444

American (AMR) AF: 0.641 AC: 9802 AN: 15294

Ashkenazi Jewish (ASJ) AF: 0.357 AC: 1241 AN: 3472

East Asian (EAS) AF: 0.991 AC: 5125 AN: 5174

South Asian (SAS) AF: 0.695 AC: 3347 AN: 4814

European-Finnish (FIN) AF: 0.608 AC: 6415 AN: 10554

Middle Eastern (MID) AF: 0.432 AC: 127 AN: 294

European-Non Finnish (NFE) AF: 0.465 AC: 31623 AN: 67960

Other (OTH) AF: 0.530 AC: 1120 AN: 2112

Alfa AF: 0.481 Hom.: 20490

Bravo AF: 0.545

Asia WGS AF: 0.814 AC: 2826 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.23
DANN	Benign	0.63
PhyloP100		-0.85

Splicing

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

Other links and lift over

dbSNP: rs10097870; hg19: chr8-11444516;