rs10511867

Variant names:

• chr9-30814130-C-G
• rs10511867

Your query was ambiguous. Multiple possible variants found:

• chr9-30814130-C-G
• chr9-30814130-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 0.0467 in 152,018 control chromosomes in the GnomAD database, including 416 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 0.047 (416 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.923

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 (EAS) allele frequency at 95% confidence interval = 0.284 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: 0.0467 AC: 7095 AN: 151900 Hom.: 417 Cov.: 32

Gnomad AFR AF: 0.0389

Gnomad AMI AF: 0.00110

Gnomad AMR AF: 0.0838

Gnomad ASJ AF: 0.0193

Gnomad EAS AF: 0.296

Gnomad SAS AF: 0.0849

Gnomad FIN AF: 0.0838

Gnomad MID AF: 0.0127

Gnomad NFE AF: 0.0181

Gnomad OTH AF: 0.0406

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

GnomAD4 genome AF: 0.0467 AC: 7094 AN: 152018 Hom.: 416 Cov.: 32 AF XY: 0.0515 AC XY: 3824 AN XY: 74282

Gnomad4 AFR AF: 0.0389

Gnomad4 AMR AF: 0.0840

Gnomad4 ASJ AF: 0.0193

Gnomad4 EAS AF: 0.296

Gnomad4 SAS AF: 0.0840

Gnomad4 FIN AF: 0.0838

Gnomad4 NFE AF: 0.0181

Gnomad4 OTH AF: 0.0402

Alfa AF: 0.0138 Hom.: 6

Bravo AF: 0.0505

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.057
DANN	Benign	0.65

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10511867; hg19: chr9-30814128;