8-126301020-C-G

Variant names:

• chr8-126301020-C-G
• rs2471943

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 0.753 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
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• 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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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

African (AFR) AF: 0.830 AC: 34445 AN: 41492

American (AMR) AF: 0.659 AC: 10070 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.766 AC: 2661 AN: 3472

East Asian (EAS) AF: 0.699 AC: 3598 AN: 5150

South Asian (SAS) AF: 0.702 AC: 3387 AN: 4822

European-Finnish (FIN) AF: 0.711 AC: 7513 AN: 10566

Middle Eastern (MID) AF: 0.796 AC: 234 AN: 294

European-Non Finnish (NFE) AF: 0.742 AC: 50485 AN: 68008

Other (OTH) AF: 0.747 AC: 1577 AN: 2112

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
PhyloP100		-0.12

Splicing

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

Other links and lift over

dbSNP: rs2471943; hg19: chr8-127313265;