chr8-75661476-G-T

Variant names:

• chr8-75661476-G-T
• rs2922763

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 0.766 in 151,992 control chromosomes in the GnomAD database, including 45,303 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 0.77 (45303 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.574
• Publications: 19 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 (AFR) allele frequency at 95% confidence interval = 0.906 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: 0.765 AC: 116251 AN: 151874 Hom.: 45252 Cov.: 31

Gnomad AFR AF: 0.913

Gnomad AMI AF: 0.735

Gnomad AMR AF: 0.710

Gnomad ASJ AF: 0.714

Gnomad EAS AF: 0.551

Gnomad SAS AF: 0.678

Gnomad FIN AF: 0.709

Gnomad MID AF: 0.731

Gnomad NFE AF: 0.722

Gnomad OTH AF: 0.765

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

GnomAD4 genome AF: 0.766 AC: 116367 AN: 151992 Hom.: 45303 Cov.: 31 AF XY: 0.761 AC XY: 56470 AN XY: 74242

African (AFR) AF: 0.914 AC: 37892 AN: 41476

American (AMR) AF: 0.710 AC: 10837 AN: 15262

Ashkenazi Jewish (ASJ) AF: 0.714 AC: 2475 AN: 3468

East Asian (EAS) AF: 0.551 AC: 2846 AN: 5162

South Asian (SAS) AF: 0.677 AC: 3262 AN: 4818

European-Finnish (FIN) AF: 0.709 AC: 7462 AN: 10520

Middle Eastern (MID) AF: 0.738 AC: 217 AN: 294

European-Non Finnish (NFE) AF: 0.722 AC: 49092 AN: 67968

Other (OTH) AF: 0.764 AC: 1614 AN: 2112

Alfa AF: 0.716 Hom.: 14279

Bravo AF: 0.779

Asia WGS AF: 0.679 AC: 2363 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	3.4
DANN	Benign	0.18
PhyloP100		0.57

Splicing

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

Other links and lift over

dbSNP: rs2922763; hg19: chr8-76573711;