rs9350051

chr6-17614721-A-Cchr6-17614721-A-Gchr6-17614721-A-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 0.484 in 150,428 control chromosomes in the GnomAD database, including 18,128 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 0.48 (18128 hom., cov: 27)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.185

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.665 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.484 AC: 72763 AN: 150312 Hom.: 18113 Cov.: 27

Gnomad AFR AF: 0.448

Gnomad AMI AF: 0.628

Gnomad AMR AF: 0.531

Gnomad ASJ AF: 0.629

Gnomad EAS AF: 0.554

Gnomad SAS AF: 0.687

Gnomad FIN AF: 0.359

Gnomad MID AF: 0.734

Gnomad NFE AF: 0.483

Gnomad OTH AF: 0.528

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

GnomAD4 genome AF: 0.484 AC: 72817 AN: 150428 Hom.: 18128 Cov.: 27 AF XY: 0.484 AC XY: 35484 AN XY: 73310

Gnomad4 AFR AF: 0.448

Gnomad4 AMR AF: 0.531

Gnomad4 ASJ AF: 0.629

Gnomad4 EAS AF: 0.554

Gnomad4 SAS AF: 0.684

Gnomad4 FIN AF: 0.359

Gnomad4 NFE AF: 0.483

Gnomad4 OTH AF: 0.532

Alfa AF: 0.506 Hom.: 26071

Bravo AF: 0.490

Asia WGS AF: 0.621 AC: 2160 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
Cadd	Benign	3.3
Dann	Benign	0.70

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9350051; hg19: chr6-17614952;