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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.531 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

Gnomad4 AFR AF: 0.810

Gnomad4 AMR AF: 0.553

Gnomad4 ASJ AF: 0.512

Gnomad4 EAS AF: 0.428

Gnomad4 SAS AF: 0.454

Gnomad4 FIN AF: 0.439

Gnomad4 NFE AF: 0.390

Gnomad4 OTH AF: 0.480

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 v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7023075; hg19: chr9-94882079;