17-8133310-T-G

Variant names:

• chr17-8133310-T-G
• rs6503086

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 0.439 in 152,020 control chromosomes in the GnomAD database, including 15,466 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 0.44 (15466 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.233
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.548 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: 0.438 AC: 66601 AN: 151900 Hom.: 15443 Cov.: 31

Gnomad AFR AF: 0.554

Gnomad AMI AF: 0.398

Gnomad AMR AF: 0.313

Gnomad ASJ AF: 0.329

Gnomad EAS AF: 0.120

Gnomad SAS AF: 0.259

Gnomad FIN AF: 0.497

Gnomad MID AF: 0.380

Gnomad NFE AF: 0.431

Gnomad OTH AF: 0.417

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

GnomAD4 genome AF: 0.439 AC: 66662 AN: 152020 Hom.: 15466 Cov.: 31 AF XY: 0.432 AC XY: 32127 AN XY: 74284

African (AFR) AF: 0.554 AC: 22977 AN: 41444

American (AMR) AF: 0.312 AC: 4768 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.329 AC: 1140 AN: 3470

East Asian (EAS) AF: 0.120 AC: 621 AN: 5180

South Asian (SAS) AF: 0.259 AC: 1247 AN: 4818

European-Finnish (FIN) AF: 0.497 AC: 5254 AN: 10576

Middle Eastern (MID) AF: 0.384 AC: 113 AN: 294

European-Non Finnish (NFE) AF: 0.431 AC: 29312 AN: 67942

Other (OTH) AF: 0.411 AC: 867 AN: 2108

Alfa AF: 0.411 Hom.: 18423

Bravo AF: 0.428

Asia WGS AF: 0.234 AC: 821 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.64
DANN	Benign	0.67
PhyloP100		-0.23

Splicing

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

Other links and lift over

dbSNP: rs6503086; hg19: chr17-8036628; COSMIC: COSV60071486;