rs9323914

Variant names:

• chr14-94691009-A-C
• rs9323914

Your query was ambiguous. Multiple possible variants found:

• chr14-94691009-A-C
• chr14-94691009-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 0.244 in 152,014 control chromosomes in the GnomAD database, including 4,842 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 0.24 (4842 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.956

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.476 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: 0.244 AC: 37065 AN: 151896 Hom.: 4821 Cov.: 32

Gnomad AFR AF: 0.294

Gnomad AMI AF: 0.237

Gnomad AMR AF: 0.184

Gnomad ASJ AF: 0.164

Gnomad EAS AF: 0.492

Gnomad SAS AF: 0.300

Gnomad FIN AF: 0.177

Gnomad MID AF: 0.168

Gnomad NFE AF: 0.220

Gnomad OTH AF: 0.226

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

GnomAD4 genome AF: 0.244 AC: 37140 AN: 152014 Hom.: 4842 Cov.: 32 AF XY: 0.244 AC XY: 18096 AN XY: 74300

Gnomad4 AFR AF: 0.294

Gnomad4 AMR AF: 0.183

Gnomad4 ASJ AF: 0.164

Gnomad4 EAS AF: 0.492

Gnomad4 SAS AF: 0.301

Gnomad4 FIN AF: 0.177

Gnomad4 NFE AF: 0.220

Gnomad4 OTH AF: 0.231

Alfa AF: 0.208 Hom.: 2805

Bravo AF: 0.246

Asia WGS AF: 0.418 AC: 1449 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.43
DANN	Benign	0.33

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9323914; hg19: chr14-95157346;