rs8069419

Variant names:

• chr17-70998250-C-A
• rs8069419

Your query was ambiguous. Multiple possible variants found:

• chr17-70998250-C-A
• chr17-70998250-C-G

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 0.241 in 151,936 control chromosomes in the GnomAD database, including 4,830 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 0.24 (4830 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.937
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.469 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.241 AC: 36644 AN: 151818 Hom.: 4826 Cov.: 32

Gnomad AFR AF: 0.219

Gnomad AMI AF: 0.420

Gnomad AMR AF: 0.244

Gnomad ASJ AF: 0.362

Gnomad EAS AF: 0.384

Gnomad SAS AF: 0.487

Gnomad FIN AF: 0.146

Gnomad MID AF: 0.293

Gnomad NFE AF: 0.232

Gnomad OTH AF: 0.247

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

GnomAD4 genome AF: 0.241 AC: 36672 AN: 151936 Hom.: 4830 Cov.: 32 AF XY: 0.240 AC XY: 17808 AN XY: 74246

African (AFR) AF: 0.219 AC: 9082 AN: 41430

American (AMR) AF: 0.244 AC: 3724 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.362 AC: 1257 AN: 3470

East Asian (EAS) AF: 0.385 AC: 1979 AN: 5146

South Asian (SAS) AF: 0.486 AC: 2334 AN: 4806

European-Finnish (FIN) AF: 0.146 AC: 1542 AN: 10566

Middle Eastern (MID) AF: 0.305 AC: 89 AN: 292

European-Non Finnish (NFE) AF: 0.232 AC: 15762 AN: 67938

Other (OTH) AF: 0.247 AC: 521 AN: 2110

Alfa AF: 0.240 Hom.: 10434

Bravo AF: 0.244

Asia WGS AF: 0.404 AC: 1405 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	4.3
DANN	Benign	0.22
PhyloP100		0.94

Splicing

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

Other links and lift over

dbSNP: rs8069419; hg19: chr17-68994391;