rs17693963

Variant names:

• chr6-27742386-A-C
• rs17693963

Your query was ambiguous. Multiple possible variants found:

• chr6-27742386-A-C
• chr6-27742386-A-G

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 0.0623 in 152,234 control chromosomes in the GnomAD database, including 410 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 0.062 (410 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.202

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0939 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: 0.0623 AC: 9474 AN: 152116 Hom.: 404 Cov.: 32

Gnomad AFR AF: 0.0279

Gnomad AMI AF: 0.231

Gnomad AMR AF: 0.0459

Gnomad ASJ AF: 0.0225

Gnomad EAS AF: 0.00926

Gnomad SAS AF: 0.0193

Gnomad FIN AF: 0.0526

Gnomad MID AF: 0.0190

Gnomad NFE AF: 0.0958

Gnomad OTH AF: 0.0488

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

GnomAD4 genome AF: 0.0623 AC: 9490 AN: 152234 Hom.: 410 Cov.: 32 AF XY: 0.0575 AC XY: 4280 AN XY: 74424

Gnomad4 AFR AF: 0.0283

Gnomad4 AMR AF: 0.0458

Gnomad4 ASJ AF: 0.0225

Gnomad4 EAS AF: 0.00947

Gnomad4 SAS AF: 0.0191

Gnomad4 FIN AF: 0.0526

Gnomad4 NFE AF: 0.0958

Gnomad4 OTH AF: 0.0482

Alfa AF: 0.0761 Hom.: 338

Bravo AF: 0.0609

Asia WGS AF: 0.0310 AC: 107 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.85
DANN	Benign	0.61

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17693963; hg19: chr6-27710165;