rs802718

Variant names:

• chr6-127968366-G-A
• rs802718

Your query was ambiguous. Multiple possible variants found:

• chr6-127968366-G-A
• chr6-127968366-G-C
• chr6-127968366-G-T

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 0.872 in 152,200 control chromosomes in the GnomAD database, including 58,494 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 0.87 (58494 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.235

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.906 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: 0.872 AC: 132589 AN: 152082 Hom.: 58459 Cov.: 32

Gnomad AFR AF: 0.905

Gnomad AMI AF: 0.837

Gnomad AMR AF: 0.816

Gnomad ASJ AF: 0.922

Gnomad EAS AF: 0.461

Gnomad SAS AF: 0.679

Gnomad FIN AF: 0.836

Gnomad MID AF: 0.911

Gnomad NFE AF: 0.913

Gnomad OTH AF: 0.869

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

GnomAD4 genome AF: 0.872 AC: 132674 AN: 152200 Hom.: 58494 Cov.: 32 AF XY: 0.861 AC XY: 64063 AN XY: 74394

Gnomad4 AFR AF: 0.904

Gnomad4 AMR AF: 0.816

Gnomad4 ASJ AF: 0.922

Gnomad4 EAS AF: 0.462

Gnomad4 SAS AF: 0.680

Gnomad4 FIN AF: 0.836

Gnomad4 NFE AF: 0.913

Gnomad4 OTH AF: 0.861

Alfa AF: 0.899 Hom.: 105696

Bravo AF: 0.873

Asia WGS AF: 0.577 AC: 2004 AN: 3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	1.7
DANN	Benign	0.43

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs802718; hg19: chr6-128289511;