17-70281175-C-T

Variant names:

• chr17-70281175-C-T
• rs236535

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 0.822 in 152,200 control chromosomes in the GnomAD database, including 52,020 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 0.82 (52020 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0140
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.941 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: 0.822 AC: 124938 AN: 152084 Hom.: 51963 Cov.: 33

Gnomad AFR AF: 0.949

Gnomad AMI AF: 0.792

Gnomad AMR AF: 0.743

Gnomad ASJ AF: 0.719

Gnomad EAS AF: 0.542

Gnomad SAS AF: 0.852

Gnomad FIN AF: 0.832

Gnomad MID AF: 0.782

Gnomad NFE AF: 0.785

Gnomad OTH AF: 0.814

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

GnomAD4 genome AF: 0.822 AC: 125042 AN: 152200 Hom.: 52020 Cov.: 33 AF XY: 0.821 AC XY: 61060 AN XY: 74396

African (AFR) AF: 0.949 AC: 39454 AN: 41568

American (AMR) AF: 0.742 AC: 11343 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.719 AC: 2496 AN: 3470

East Asian (EAS) AF: 0.541 AC: 2791 AN: 5156

South Asian (SAS) AF: 0.852 AC: 4115 AN: 4828

European-Finnish (FIN) AF: 0.832 AC: 8805 AN: 10586

Middle Eastern (MID) AF: 0.779 AC: 229 AN: 294

European-Non Finnish (NFE) AF: 0.785 AC: 53367 AN: 67992

Other (OTH) AF: 0.813 AC: 1721 AN: 2116

Alfa AF: 0.817 Hom.: 6610

Bravo AF: 0.814

Asia WGS AF: 0.723 AC: 2516 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.3
DANN	Benign	0.40
PhyloP100		-0.014

Splicing

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

Other links and lift over

dbSNP: rs236535; hg19: chr17-68277316;