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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

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

Gnomad4 AFR AF: 0.283

Gnomad4 AMR AF: 0.432

Gnomad4 ASJ AF: 0.238

Gnomad4 EAS AF: 0.541

Gnomad4 SAS AF: 0.390

Gnomad4 FIN AF: 0.273

Gnomad4 NFE AF: 0.295

Gnomad4 OTH AF: 0.309

Alfa AF: 0.296 Hom.: 12036

Bravo AF: 0.323

Asia WGS AF: 0.506 AC: 1756 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4917017; hg19: chr7-50335232;