rs7023148

Variant names:

• chr9-10684803-C-A
• rs7023148

Your query was ambiguous. Multiple possible variants found:

• chr9-10684803-C-A
• chr9-10684803-C-G
• chr9-10684803-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 0.871 in 152,114 control chromosomes in the GnomAD database, including 58,119 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 0.87 (58119 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0100
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -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 = 0.953 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: 0.871 AC: 132347 AN: 151996 Hom.: 58088 Cov.: 31

Gnomad AFR AF: 0.762

Gnomad AMI AF: 0.874

Gnomad AMR AF: 0.905

Gnomad ASJ AF: 0.824

Gnomad EAS AF: 0.976

Gnomad SAS AF: 0.860

Gnomad FIN AF: 0.949

Gnomad MID AF: 0.864

Gnomad NFE AF: 0.912

Gnomad OTH AF: 0.884

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

GnomAD4 genome AF: 0.871 AC: 132434 AN: 152114 Hom.: 58119 Cov.: 31 AF XY: 0.875 AC XY: 65091 AN XY: 74370

African (AFR) AF: 0.762 AC: 31588 AN: 41450

American (AMR) AF: 0.905 AC: 13839 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.824 AC: 2859 AN: 3470

East Asian (EAS) AF: 0.975 AC: 5050 AN: 5178

South Asian (SAS) AF: 0.860 AC: 4149 AN: 4822

European-Finnish (FIN) AF: 0.949 AC: 10052 AN: 10592

Middle Eastern (MID) AF: 0.861 AC: 253 AN: 294

European-Non Finnish (NFE) AF: 0.912 AC: 61984 AN: 67998

Other (OTH) AF: 0.881 AC: 1863 AN: 2114

Alfa AF: 0.896 Hom.: 114826

Bravo AF: 0.866

Asia WGS AF: 0.870 AC: 3026 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.79
DANN	Benign	0.45
PhyloP100		-0.010

Splicing

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

Other links and lift over

dbSNP: rs7023148; hg19: chr9-10684803;