rs17703427

Variant names:

• chr17-70235867-A-G
• rs17703427

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 0.102 in 152,214 control chromosomes in the GnomAD database, including 1,041 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 0.10 (1041 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0170
• Publications: 1 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 (SAS) allele frequency at 95% confidence interval = 0.235 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.102 AC: 15544 AN: 152096 Hom.: 1037 Cov.: 32

Gnomad AFR AF: 0.0266

Gnomad AMI AF: 0.201

Gnomad AMR AF: 0.0982

Gnomad ASJ AF: 0.125

Gnomad EAS AF: 0.152

Gnomad SAS AF: 0.248

Gnomad FIN AF: 0.109

Gnomad MID AF: 0.168

Gnomad NFE AF: 0.130

Gnomad OTH AF: 0.143

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

GnomAD4 genome AF: 0.102 AC: 15545 AN: 152214 Hom.: 1041 Cov.: 32 AF XY: 0.105 AC XY: 7791 AN XY: 74414

African (AFR) AF: 0.0266 AC: 1104 AN: 41568

American (AMR) AF: 0.0980 AC: 1498 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.125 AC: 433 AN: 3472

East Asian (EAS) AF: 0.153 AC: 788 AN: 5164

South Asian (SAS) AF: 0.247 AC: 1188 AN: 4818

European-Finnish (FIN) AF: 0.109 AC: 1159 AN: 10594

Middle Eastern (MID) AF: 0.173 AC: 51 AN: 294

European-Non Finnish (NFE) AF: 0.130 AC: 8833 AN: 67996

Other (OTH) AF: 0.146 AC: 308 AN: 2112

Alfa AF: 0.123 Hom.: 2318

Bravo AF: 0.0922

Asia WGS AF: 0.210 AC: 730 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	2.9
DANN	Benign	0.70
PhyloP100		-0.017

Splicing

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

Other links and lift over

dbSNP: rs17703427; hg19: chr17-68232008;