8-106237331-T-C

Variant names:

• chr8-106237331-T-C
• rs958630

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 0.554 in 152,084 control chromosomes in the GnomAD database, including 26,216 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 0.55 (26216 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.211
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.72).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.817 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: 0.554 AC: 84172 AN: 151966 Hom.: 26206 Cov.: 33

Gnomad AFR AF: 0.253

Gnomad AMI AF: 0.672

Gnomad AMR AF: 0.609

Gnomad ASJ AF: 0.639

Gnomad EAS AF: 0.837

Gnomad SAS AF: 0.831

Gnomad FIN AF: 0.676

Gnomad MID AF: 0.677

Gnomad NFE AF: 0.656

Gnomad OTH AF: 0.608

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

GnomAD4 genome AF: 0.554 AC: 84206 AN: 152084 Hom.: 26216 Cov.: 33 AF XY: 0.564 AC XY: 41898 AN XY: 74326

African (AFR) AF: 0.252 AC: 10456 AN: 41462

American (AMR) AF: 0.610 AC: 9303 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.639 AC: 2217 AN: 3470

East Asian (EAS) AF: 0.838 AC: 4342 AN: 5182

South Asian (SAS) AF: 0.832 AC: 4016 AN: 4826

European-Finnish (FIN) AF: 0.676 AC: 7154 AN: 10576

Middle Eastern (MID) AF: 0.670 AC: 197 AN: 294

European-Non Finnish (NFE) AF: 0.656 AC: 44617 AN: 67988

Other (OTH) AF: 0.611 AC: 1291 AN: 2114

Alfa AF: 0.616 Hom.: 80557

Bravo AF: 0.532

Asia WGS AF: 0.780 AC: 2709 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.72
CADD	Benign	11
DANN	Benign	0.74
PhyloP100		-0.21

Splicing

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

Other links and lift over

dbSNP: rs958630; hg19: chr8-107249559;