rs8079702

Variant names:

• chr17-70194685-G-A
• rs8079702

Your query was ambiguous. Multiple possible variants found:

• chr17-70194685-G-A
• chr17-70194685-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 0.532 in 146,164 control chromosomes in the GnomAD database, including 20,869 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 0.53 (20869 hom., cov: 26)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.17
• Publications: 24 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.579 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.532 AC: 77763 AN: 146094 Hom.: 20847 Cov.: 26

Gnomad AFR AF: 0.439

Gnomad AMI AF: 0.558

Gnomad AMR AF: 0.509

Gnomad ASJ AF: 0.544

Gnomad EAS AF: 0.597

Gnomad SAS AF: 0.538

Gnomad FIN AF: 0.623

Gnomad MID AF: 0.487

Gnomad NFE AF: 0.574

Gnomad OTH AF: 0.524

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

GnomAD4 genome AF: 0.532 AC: 77821 AN: 146164 Hom.: 20869 Cov.: 26 AF XY: 0.531 AC XY: 37658 AN XY: 70938

African (AFR) AF: 0.439 AC: 17234 AN: 39226

American (AMR) AF: 0.509 AC: 7356 AN: 14442

Ashkenazi Jewish (ASJ) AF: 0.544 AC: 1881 AN: 3456

East Asian (EAS) AF: 0.597 AC: 2977 AN: 4984

South Asian (SAS) AF: 0.538 AC: 2497 AN: 4640

European-Finnish (FIN) AF: 0.623 AC: 5580 AN: 8956

Middle Eastern (MID) AF: 0.486 AC: 136 AN: 280

European-Non Finnish (NFE) AF: 0.574 AC: 38577 AN: 67230

Other (OTH) AF: 0.527 AC: 1077 AN: 2044

Alfa AF: 0.553 Hom.: 95217

Bravo AF: 0.510

Asia WGS AF: 0.561 AC: 1947 AN: 3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	0.41
DANN	Benign	0.74
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs8079702; hg19: chr17-68190826;