8-127501060-C-G

Variant names:

• chr8-127501060-C-G
• rs6981321

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 0.627 in 151,940 control chromosomes in the GnomAD database, including 31,350 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 0.63 (31350 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.783
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.79).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.72 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: 0.628 AC: 95279 AN: 151820 Hom.: 31334 Cov.: 32

Gnomad AFR AF: 0.430

Gnomad AMI AF: 0.755

Gnomad AMR AF: 0.690

Gnomad ASJ AF: 0.784

Gnomad EAS AF: 0.491

Gnomad SAS AF: 0.640

Gnomad FIN AF: 0.666

Gnomad MID AF: 0.797

Gnomad NFE AF: 0.726

Gnomad OTH AF: 0.674

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

GnomAD4 genome AF: 0.627 AC: 95330 AN: 151940 Hom.: 31350 Cov.: 32 AF XY: 0.627 AC XY: 46561 AN XY: 74254

African (AFR) AF: 0.430 AC: 17821 AN: 41442

American (AMR) AF: 0.689 AC: 10527 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.784 AC: 2715 AN: 3462

East Asian (EAS) AF: 0.490 AC: 2535 AN: 5172

South Asian (SAS) AF: 0.641 AC: 3086 AN: 4816

European-Finnish (FIN) AF: 0.666 AC: 6989 AN: 10496

Middle Eastern (MID) AF: 0.813 AC: 239 AN: 294

European-Non Finnish (NFE) AF: 0.726 AC: 49319 AN: 67972

Other (OTH) AF: 0.671 AC: 1412 AN: 2104

Alfa AF: 0.555 Hom.: 1671

Bravo AF: 0.619

Asia WGS AF: 0.530 AC: 1844 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.79
CADD	Benign	10
DANN	Benign	0.81
PhyloP100		-0.78

Splicing

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

Other links and lift over

dbSNP: rs6981321; hg19: chr8-128513305; COSMIC: COSV107189807;