rs4917017

Variant names:

• chr7-50295636-G-A
• rs4917017

Your query was ambiguous. Multiple possible variants found:

• chr7-50295636-G-A
• chr7-50295636-G-C
• chr7-50295636-G-T

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 0.314 in 152,026 control chromosomes in the GnomAD database, including 7,937 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 0.31 (7937 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.949
• Publications: 20 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.68).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.524 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: 0.314 AC: 47706 AN: 151908 Hom.: 7927 Cov.: 32

Gnomad AFR AF: 0.283

Gnomad AMI AF: 0.300

Gnomad AMR AF: 0.432

Gnomad ASJ AF: 0.238

Gnomad EAS AF: 0.541

Gnomad SAS AF: 0.388

Gnomad FIN AF: 0.273

Gnomad MID AF: 0.215

Gnomad NFE AF: 0.295

Gnomad OTH AF: 0.306

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

GnomAD4 genome AF: 0.314 AC: 47759 AN: 152026 Hom.: 7937 Cov.: 32 AF XY: 0.317 AC XY: 23565 AN XY: 74344

African (AFR) AF: 0.283 AC: 11715 AN: 41440

American (AMR) AF: 0.432 AC: 6603 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.238 AC: 827 AN: 3470

East Asian (EAS) AF: 0.541 AC: 2798 AN: 5176

South Asian (SAS) AF: 0.390 AC: 1878 AN: 4816

European-Finnish (FIN) AF: 0.273 AC: 2885 AN: 10572

Middle Eastern (MID) AF: 0.218 AC: 64 AN: 294

European-Non Finnish (NFE) AF: 0.295 AC: 20063 AN: 67966

Other (OTH) AF: 0.309 AC: 653 AN: 2110

Alfa AF: 0.301 Hom.: 29284

Bravo AF: 0.323

Asia WGS AF: 0.506 AC: 1756 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.68
CADD	Benign	7.4
DANN	Benign	0.78
PhyloP100		0.95

Splicing

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

Other links and lift over

dbSNP: rs4917017; hg19: chr7-50335232;