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. The variant received -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
• Publications: 6 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.904 AC: 37571 AN: 41538

American (AMR) AF: 0.816 AC: 12472 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.922 AC: 3202 AN: 3472

East Asian (EAS) AF: 0.462 AC: 2382 AN: 5156

South Asian (SAS) AF: 0.680 AC: 3277 AN: 4820

European-Finnish (FIN) AF: 0.836 AC: 8855 AN: 10590

Middle Eastern (MID) AF: 0.915 AC: 269 AN: 294

European-Non Finnish (NFE) AF: 0.913 AC: 62063 AN: 68014

Other (OTH) AF: 0.861 AC: 1820 AN: 2114

Alfa AF: 0.895 Hom.: 246690

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
PhyloP100		0.23

Splicing

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

Other links and lift over

dbSNP: rs802718; hg19: chr6-128289511;