rs9912168

Variant names:

• chr17-4419999-A-G
• rs9912168

Your query was ambiguous. Multiple possible variants found:

• chr17-4419999-A-G
• chr17-4419999-A-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.39 in 151,916 control chromosomes in the GnomAD database, including 12,373 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 0.39 (12373 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.407
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.528 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: 0.390 AC: 59250 AN: 151798 Hom.: 12354 Cov.: 31

Gnomad AFR AF: 0.534

Gnomad AMI AF: 0.517

Gnomad AMR AF: 0.399

Gnomad ASJ AF: 0.404

Gnomad EAS AF: 0.181

Gnomad SAS AF: 0.338

Gnomad FIN AF: 0.328

Gnomad MID AF: 0.345

Gnomad NFE AF: 0.329

Gnomad OTH AF: 0.384

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

GnomAD4 genome AF: 0.390 AC: 59322 AN: 151916 Hom.: 12373 Cov.: 31 AF XY: 0.390 AC XY: 28939 AN XY: 74228

African (AFR) AF: 0.534 AC: 22098 AN: 41392

American (AMR) AF: 0.399 AC: 6073 AN: 15214

Ashkenazi Jewish (ASJ) AF: 0.404 AC: 1404 AN: 3472

East Asian (EAS) AF: 0.181 AC: 938 AN: 5174

South Asian (SAS) AF: 0.337 AC: 1623 AN: 4818

European-Finnish (FIN) AF: 0.328 AC: 3468 AN: 10566

Middle Eastern (MID) AF: 0.344 AC: 101 AN: 294

European-Non Finnish (NFE) AF: 0.329 AC: 22341 AN: 67966

Other (OTH) AF: 0.382 AC: 808 AN: 2114

Alfa AF: 0.352 Hom.: 29505

Bravo AF: 0.402

Asia WGS AF: 0.297 AC: 1032 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	2.2
DANN	Benign	0.17
PhyloP100		-0.41

Splicing

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

Other links and lift over

dbSNP: rs9912168; hg19: chr17-4323294;