rs6999813

Variant names:

• chr8-20005960-T-A
• rs6999813

Your query was ambiguous. Multiple possible variants found:

• chr8-20005960-T-A
• chr8-20005960-T-C

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 0.0876 in 152,254 control chromosomes in the GnomAD database, including 593 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 0.088 (593 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.447

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.101 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: 0.0877 AC: 13343 AN: 152136 Hom.: 594 Cov.: 33

Gnomad AFR AF: 0.0615

Gnomad AMI AF: 0.155

Gnomad AMR AF: 0.0773

Gnomad ASJ AF: 0.104

Gnomad EAS AF: 0.109

Gnomad SAS AF: 0.101

Gnomad FIN AF: 0.0912

Gnomad MID AF: 0.111

Gnomad NFE AF: 0.101

Gnomad OTH AF: 0.0862

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

GnomAD4 genome AF: 0.0876 AC: 13333 AN: 152254 Hom.: 593 Cov.: 33 AF XY: 0.0868 AC XY: 6462 AN XY: 74442

Gnomad4 AFR AF: 0.0614

Gnomad4 AMR AF: 0.0772

Gnomad4 ASJ AF: 0.104

Gnomad4 EAS AF: 0.108

Gnomad4 SAS AF: 0.100

Gnomad4 FIN AF: 0.0912

Gnomad4 NFE AF: 0.101

Gnomad4 OTH AF: 0.0853

Alfa AF: 0.0203 Hom.: 10

Bravo AF: 0.0844

Asia WGS AF: 0.102 AC: 355 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.85
DANN	Benign	0.35

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6999813; hg19: chr8-19863471;