8-91472644-C-T

Variant names:

• chr8-91472644-C-T
• rs10504908

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 0.218 in 151,686 control chromosomes in the GnomAD database, including 6,756 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 0.22 (6756 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0970

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.541 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: 0.217 AC: 32938 AN: 151576 Hom.: 6723 Cov.: 31

Gnomad AFR AF: 0.546

Gnomad AMI AF: 0.193

Gnomad AMR AF: 0.138

Gnomad ASJ AF: 0.0674

Gnomad EAS AF: 0.0416

Gnomad SAS AF: 0.0545

Gnomad FIN AF: 0.0454

Gnomad MID AF: 0.0949

Gnomad NFE AF: 0.0959

Gnomad OTH AF: 0.192

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

GnomAD4 genome AF: 0.218 AC: 33019 AN: 151686 Hom.: 6756 Cov.: 31 AF XY: 0.210 AC XY: 15569 AN XY: 74106

African (AFR) AF: 0.547 AC: 22611 AN: 41340

American (AMR) AF: 0.138 AC: 2106 AN: 15234

Ashkenazi Jewish (ASJ) AF: 0.0674 AC: 234 AN: 3470

East Asian (EAS) AF: 0.0415 AC: 214 AN: 5156

South Asian (SAS) AF: 0.0553 AC: 266 AN: 4814

European-Finnish (FIN) AF: 0.0454 AC: 474 AN: 10452

Middle Eastern (MID) AF: 0.0850 AC: 25 AN: 294

European-Non Finnish (NFE) AF: 0.0959 AC: 6516 AN: 67914

Other (OTH) AF: 0.189 AC: 397 AN: 2100

Alfa AF: 0.125 Hom.: 5168

Bravo AF: 0.242

Asia WGS AF: 0.0900 AC: 314 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	4.5
DANN	Benign	0.65
PhyloP100		-0.097

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10504908; hg19: chr8-92484872;