rs7023075

Variant names:

• chr9-92119797-G-A
• rs7023075

Your query was ambiguous. Multiple possible variants found:

• chr9-92119797-G-A
• chr9-92119797-G-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 0.531 in 152,066 control chromosomes in the GnomAD database, including 23,985 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 0.53 (23985 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0480
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.802 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.531 AC: 80673 AN: 151948 Hom.: 23936 Cov.: 33

Gnomad AFR AF: 0.809

Gnomad AMI AF: 0.251

Gnomad AMR AF: 0.553

Gnomad ASJ AF: 0.512

Gnomad EAS AF: 0.427

Gnomad SAS AF: 0.454

Gnomad FIN AF: 0.439

Gnomad MID AF: 0.491

Gnomad NFE AF: 0.390

Gnomad OTH AF: 0.477

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

GnomAD4 genome AF: 0.531 AC: 80787 AN: 152066 Hom.: 23985 Cov.: 33 AF XY: 0.534 AC XY: 39676 AN XY: 74308

African (AFR) AF: 0.810 AC: 33619 AN: 41522

American (AMR) AF: 0.553 AC: 8450 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.512 AC: 1775 AN: 3466

East Asian (EAS) AF: 0.428 AC: 2214 AN: 5176

South Asian (SAS) AF: 0.454 AC: 2186 AN: 4820

European-Finnish (FIN) AF: 0.439 AC: 4627 AN: 10532

Middle Eastern (MID) AF: 0.480 AC: 141 AN: 294

European-Non Finnish (NFE) AF: 0.390 AC: 26536 AN: 67962

Other (OTH) AF: 0.480 AC: 1011 AN: 2108

Alfa AF: 0.522 Hom.: 3862

Bravo AF: 0.550

Asia WGS AF: 0.481 AC: 1673 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	2.2
DANN	Benign	0.46
PhyloP100		-0.048

Splicing

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

Other links and lift over

dbSNP: rs7023075; hg19: chr9-94882079;