17-55437171-A-G

Variant names:

• chr17-55437171-A-G
• rs10515101

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 0.164 in 152,118 control chromosomes in the GnomAD database, including 2,078 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 0.16 (2078 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.02
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.233 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: 0.164 AC: 24875 AN: 152000 Hom.: 2074 Cov.: 32

Gnomad AFR AF: 0.121

Gnomad AMI AF: 0.270

Gnomad AMR AF: 0.144

Gnomad ASJ AF: 0.166

Gnomad EAS AF: 0.244

Gnomad SAS AF: 0.166

Gnomad FIN AF: 0.159

Gnomad MID AF: 0.168

Gnomad NFE AF: 0.187

Gnomad OTH AF: 0.163

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

GnomAD4 genome AF: 0.164 AC: 24888 AN: 152118 Hom.: 2078 Cov.: 32 AF XY: 0.165 AC XY: 12240 AN XY: 74358

African (AFR) AF: 0.121 AC: 5010 AN: 41508

American (AMR) AF: 0.144 AC: 2197 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.166 AC: 575 AN: 3470

East Asian (EAS) AF: 0.244 AC: 1262 AN: 5162

South Asian (SAS) AF: 0.166 AC: 802 AN: 4824

European-Finnish (FIN) AF: 0.159 AC: 1684 AN: 10574

Middle Eastern (MID) AF: 0.184 AC: 54 AN: 294

European-Non Finnish (NFE) AF: 0.187 AC: 12718 AN: 67994

Other (OTH) AF: 0.161 AC: 341 AN: 2116

Alfa AF: 0.179 Hom.: 7145

Bravo AF: 0.162

Asia WGS AF: 0.169 AC: 586 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	0.017
DANN	Benign	0.48
PhyloP100		-1.0

Splicing

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

Other links and lift over

dbSNP: rs10515101; hg19: chr17-53514532;