rs17093348

Variant names:

• chr14-60207772-G-A
• rs17093348

Your query was ambiguous. Multiple possible variants found:

• chr14-60207772-G-A
• chr14-60207772-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 0.0825 in 152,212 control chromosomes in the GnomAD database, including 918 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 0.082 (918 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.176

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.198 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: 0.0821 AC: 12483 AN: 152092 Hom.: 896 Cov.: 32

Gnomad AFR AF: 0.172

Gnomad AMI AF: 0.0110

Gnomad AMR AF: 0.0579

Gnomad ASJ AF: 0.0903

Gnomad EAS AF: 0.208

Gnomad SAS AF: 0.0999

Gnomad FIN AF: 0.0162

Gnomad MID AF: 0.0981

Gnomad NFE AF: 0.0330

Gnomad OTH AF: 0.0702

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

GnomAD4 genome AF: 0.0825 AC: 12556 AN: 152212 Hom.: 918 Cov.: 32 AF XY: 0.0824 AC XY: 6130 AN XY: 74432

Gnomad4 AFR AF: 0.173

Gnomad4 AMR AF: 0.0579

Gnomad4 ASJ AF: 0.0903

Gnomad4 EAS AF: 0.208

Gnomad4 SAS AF: 0.100

Gnomad4 FIN AF: 0.0162

Gnomad4 NFE AF: 0.0330

Gnomad4 OTH AF: 0.0723

Alfa AF: 0.0478 Hom.: 79

Bravo AF: 0.0883

Asia WGS AF: 0.144 AC: 502 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.77
DANN	Benign	0.68

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17093348; hg19: chr14-60674490;