8-126301020-C-G

Position:

• chr8-126301020-C-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.753 in 152,110 control chromosomes in the GnomAD database, including 43,312 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 0.75 (43312 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.117

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.823 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.753 AC: 114417 AN: 151992 Hom.: 43263 Cov.: 32

Gnomad AFR AF: 0.830

Gnomad AMI AF: 0.607

Gnomad AMR AF: 0.659

Gnomad ASJ AF: 0.766

Gnomad EAS AF: 0.699

Gnomad SAS AF: 0.702

Gnomad FIN AF: 0.711

Gnomad MID AF: 0.788

Gnomad NFE AF: 0.742

Gnomad OTH AF: 0.750

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

GnomAD4 genome AF: 0.753 AC: 114521 AN: 152110 Hom.: 43312 Cov.: 32 AF XY: 0.748 AC XY: 55620 AN XY: 74338

Gnomad4 AFR AF: 0.830

Gnomad4 AMR AF: 0.659

Gnomad4 ASJ AF: 0.766

Gnomad4 EAS AF: 0.699

Gnomad4 SAS AF: 0.702

Gnomad4 FIN AF: 0.711

Gnomad4 NFE AF: 0.742

Gnomad4 OTH AF: 0.747

Alfa AF: 0.761 Hom.: 5482

Bravo AF: 0.752

Asia WGS AF: 0.682 AC: 2370 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.1
DANN	Benign	0.47

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2471943; hg19: chr8-127313265;