17-34299488-C-T

Variant names:

• chr17-34299488-C-T
• rs8081356

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 0.561 in 152,002 control chromosomes in the GnomAD database, including 24,661 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 0.56 (24661 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.255
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.889 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: 0.561 AC: 85202 AN: 151884 Hom.: 24628 Cov.: 32

Gnomad AFR AF: 0.461

Gnomad AMI AF: 0.341

Gnomad AMR AF: 0.660

Gnomad ASJ AF: 0.613

Gnomad EAS AF: 0.911

Gnomad SAS AF: 0.642

Gnomad FIN AF: 0.566

Gnomad MID AF: 0.430

Gnomad NFE AF: 0.568

Gnomad OTH AF: 0.544

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

GnomAD4 genome AF: 0.561 AC: 85291 AN: 152002 Hom.: 24661 Cov.: 32 AF XY: 0.565 AC XY: 41957 AN XY: 74284

African (AFR) AF: 0.462 AC: 19127 AN: 41444

American (AMR) AF: 0.660 AC: 10088 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.613 AC: 2129 AN: 3472

East Asian (EAS) AF: 0.911 AC: 4702 AN: 5162

South Asian (SAS) AF: 0.641 AC: 3087 AN: 4818

European-Finnish (FIN) AF: 0.566 AC: 5967 AN: 10548

Middle Eastern (MID) AF: 0.438 AC: 128 AN: 292

European-Non Finnish (NFE) AF: 0.568 AC: 38593 AN: 67966

Other (OTH) AF: 0.549 AC: 1160 AN: 2114

Alfa AF: 0.536 Hom.: 4877

Bravo AF: 0.564

Asia WGS AF: 0.780 AC: 2709 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	2.4
DANN	Benign	0.64
PhyloP100		0.26

Splicing

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

Other links and lift over

dbSNP: rs8081356; hg19: chr17-32626507;