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. The variant received -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
• Publications: 0 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.0389 AC: 1612 AN: 41470

American (AMR) AF: 0.0840 AC: 1280 AN: 15246

Ashkenazi Jewish (ASJ) AF: 0.0193 AC: 67 AN: 3466

East Asian (EAS) AF: 0.296 AC: 1522 AN: 5142

South Asian (SAS) AF: 0.0840 AC: 405 AN: 4824

European-Finnish (FIN) AF: 0.0838 AC: 885 AN: 10560

Middle Eastern (MID) AF: 0.0136 AC: 4 AN: 294

European-Non Finnish (NFE) AF: 0.0181 AC: 1233 AN: 67988

Other (OTH) AF: 0.0402 AC: 85 AN: 2116

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
PhyloP100		-0.92

Splicing

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

Other links and lift over

dbSNP: rs10511867; hg19: chr9-30814128;