8-97569988-G-A

Variant names:

• chr8-97569988-G-A
• rs1382606

Variant summary

Our verdict is Benign. The variant received -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The variant allele was found at a frequency of 0.641 in 152,052 control chromosomes in the GnomAD database, including 33,724 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 0.64 (33724 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.791
• Publications: 3 publications found

ACMG classification

Our verdict: Benign. The variant received -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.44).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.893 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: 0.641 AC: 97321 AN: 151934 Hom.: 33658 Cov.: 32

Gnomad AFR AF: 0.900

Gnomad AMI AF: 0.464

Gnomad AMR AF: 0.712

Gnomad ASJ AF: 0.556

Gnomad EAS AF: 0.751

Gnomad SAS AF: 0.555

Gnomad FIN AF: 0.437

Gnomad MID AF: 0.604

Gnomad NFE AF: 0.502

Gnomad OTH AF: 0.643

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

GnomAD4 genome AF: 0.641 AC: 97451 AN: 152052 Hom.: 33724 Cov.: 32 AF XY: 0.639 AC XY: 47454 AN XY: 74304

African (AFR) AF: 0.901 AC: 37394 AN: 41522

American (AMR) AF: 0.712 AC: 10887 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.556 AC: 1926 AN: 3466

East Asian (EAS) AF: 0.751 AC: 3895 AN: 5184

South Asian (SAS) AF: 0.555 AC: 2669 AN: 4812

European-Finnish (FIN) AF: 0.437 AC: 4598 AN: 10524

Middle Eastern (MID) AF: 0.605 AC: 178 AN: 294

European-Non Finnish (NFE) AF: 0.502 AC: 34118 AN: 67952

Other (OTH) AF: 0.648 AC: 1365 AN: 2108

Alfa AF: 0.553 Hom.: 41029

Bravo AF: 0.677

Asia WGS AF: 0.677 AC: 2356 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.44
CADD	Benign	14
DANN	Benign	0.81
PhyloP100		0.79

Splicing

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

Other links and lift over

dbSNP: rs1382606; hg19: chr8-98582216;