chr8-126523186-G-T

Variant names:

• chr8-126523186-G-T
• rs10101440

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 0.882 in 152,190 control chromosomes in the GnomAD database, including 59,637 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 0.88 (59637 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.297
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.96 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: 0.882 AC: 134081 AN: 152072 Hom.: 59580 Cov.: 31

Gnomad AFR AF: 0.968

Gnomad AMI AF: 0.813

Gnomad AMR AF: 0.799

Gnomad ASJ AF: 0.924

Gnomad EAS AF: 0.644

Gnomad SAS AF: 0.787

Gnomad FIN AF: 0.886

Gnomad MID AF: 0.911

Gnomad NFE AF: 0.871

Gnomad OTH AF: 0.866

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

GnomAD4 genome AF: 0.882 AC: 134196 AN: 152190 Hom.: 59637 Cov.: 31 AF XY: 0.878 AC XY: 65329 AN XY: 74396

African (AFR) AF: 0.968 AC: 40216 AN: 41542

American (AMR) AF: 0.799 AC: 12217 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.924 AC: 3208 AN: 3472

East Asian (EAS) AF: 0.644 AC: 3314 AN: 5146

South Asian (SAS) AF: 0.786 AC: 3783 AN: 4810

European-Finnish (FIN) AF: 0.886 AC: 9390 AN: 10600

Middle Eastern (MID) AF: 0.912 AC: 268 AN: 294

European-Non Finnish (NFE) AF: 0.871 AC: 59226 AN: 68012

Other (OTH) AF: 0.866 AC: 1833 AN: 2116

Alfa AF: 0.854 Hom.: 2742

Bravo AF: 0.877

Asia WGS AF: 0.769 AC: 2679 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.96
DANN	Benign	0.70
PhyloP100		-0.30

Splicing

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

Other links and lift over

dbSNP: rs10101440; hg19: chr8-127535431;