8-128628606-G-A

Variant names:

• chr8-128628606-G-A
• rs10505528

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 0.0902 in 152,164 control chromosomes in the GnomAD database, including 853 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 0.090 (853 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.137
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.137 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: 0.0903 AC: 13729 AN: 152046 Hom.: 853 Cov.: 32

Gnomad AFR AF: 0.0248

Gnomad AMI AF: 0.247

Gnomad AMR AF: 0.0758

Gnomad ASJ AF: 0.113

Gnomad EAS AF: 0.00328

Gnomad SAS AF: 0.0722

Gnomad FIN AF: 0.0780

Gnomad MID AF: 0.143

Gnomad NFE AF: 0.139

Gnomad OTH AF: 0.0990

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

GnomAD4 genome AF: 0.0902 AC: 13731 AN: 152164 Hom.: 853 Cov.: 32 AF XY: 0.0876 AC XY: 6514 AN XY: 74388

African (AFR) AF: 0.0248 AC: 1029 AN: 41536

American (AMR) AF: 0.0756 AC: 1155 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.113 AC: 392 AN: 3466

East Asian (EAS) AF: 0.00348 AC: 18 AN: 5176

South Asian (SAS) AF: 0.0731 AC: 352 AN: 4814

European-Finnish (FIN) AF: 0.0780 AC: 827 AN: 10596

Middle Eastern (MID) AF: 0.147 AC: 43 AN: 292

European-Non Finnish (NFE) AF: 0.139 AC: 9484 AN: 67988

Other (OTH) AF: 0.0980 AC: 207 AN: 2112

Alfa AF: 0.125 Hom.: 429

Bravo AF: 0.0866

Asia WGS AF: 0.0330 AC: 116 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	1.8
DANN	Benign	0.68
PhyloP100		0.14

Splicing

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

Other links and lift over

dbSNP: rs10505528; hg19: chr8-129640852;