rs9951925

chr18-74211282-C-Achr18-74211282-C-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 0.517 in 152,072 control chromosomes in the GnomAD database, including 20,543 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 0.52 (20543 hom., cov: 33)
  • Exomes 𝑓: 0.0 (0 hom.)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.916

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.569 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: 0.517 AC: 78505 AN: 151954 Hom.: 20510 Cov.: 33

Gnomad AFR AF: 0.575

Gnomad AMI AF: 0.513

Gnomad AMR AF: 0.524

Gnomad ASJ AF: 0.444

Gnomad EAS AF: 0.281

Gnomad SAS AF: 0.449

Gnomad FIN AF: 0.449

Gnomad MID AF: 0.604

Gnomad NFE AF: 0.516

Gnomad OTH AF: 0.525

GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0 AN: 2 Hom.: 0 AC XY: 0 AN XY: 0

Gnomad4 AMR exome AF: 0.00

GnomAD4 genome AF: 0.517 AC: 78594 AN: 152072 Hom.: 20543 Cov.: 33 AF XY: 0.512 AC XY: 38039 AN XY: 74334

Gnomad4 AFR AF: 0.576

Gnomad4 AMR AF: 0.524

Gnomad4 ASJ AF: 0.444

Gnomad4 EAS AF: 0.281

Gnomad4 SAS AF: 0.450

Gnomad4 FIN AF: 0.449

Gnomad4 NFE AF: 0.516

Gnomad4 OTH AF: 0.525

Alfa AF: 0.511 Hom.: 8731

Bravo AF: 0.529

Asia WGS AF: 0.362 AC: 1258 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	0.26
Dann	Benign	0.39

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9951925; hg19: chr18-71878517;