8-35123080-A-G

Variant names:

• chr8-35123080-A-G
• rs2167362

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 0.734 in 151,976 control chromosomes in the GnomAD database, including 42,052 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 0.73 (42052 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.84
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.914 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.734 AC: 111538 AN: 151856 Hom.: 42014 Cov.: 31

Gnomad AFR AF: 0.922

Gnomad AMI AF: 0.684

Gnomad AMR AF: 0.644

Gnomad ASJ AF: 0.634

Gnomad EAS AF: 0.696

Gnomad SAS AF: 0.637

Gnomad FIN AF: 0.611

Gnomad MID AF: 0.671

Gnomad NFE AF: 0.677

Gnomad OTH AF: 0.708

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

GnomAD4 genome AF: 0.734 AC: 111623 AN: 151976 Hom.: 42052 Cov.: 31 AF XY: 0.726 AC XY: 53926 AN XY: 74252

African (AFR) AF: 0.922 AC: 38261 AN: 41512

American (AMR) AF: 0.643 AC: 9811 AN: 15256

Ashkenazi Jewish (ASJ) AF: 0.634 AC: 2197 AN: 3464

East Asian (EAS) AF: 0.696 AC: 3570 AN: 5130

South Asian (SAS) AF: 0.636 AC: 3065 AN: 4820

European-Finnish (FIN) AF: 0.611 AC: 6434 AN: 10536

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

European-Non Finnish (NFE) AF: 0.677 AC: 45985 AN: 67944

Other (OTH) AF: 0.704 AC: 1485 AN: 2110

Alfa AF: 0.711 Hom.: 57437

Bravo AF: 0.748

Asia WGS AF: 0.651 AC: 2265 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.53
DANN	Benign	0.35
PhyloP100		-1.8

Splicing

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

Other links and lift over

dbSNP: rs2167362; hg19: chr8-34980598;