rs7592330

Variant names:

• chr2-68419651-G-A
• rs7592330

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 0.571 in 151,978 control chromosomes in the GnomAD database, including 25,435 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 0.57 (25435 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.803

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 = 0.877 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: 0.570 AC: 86616 AN: 151860 Hom.: 25394 Cov.: 31

Gnomad AFR AF: 0.492

Gnomad AMI AF: 0.574

Gnomad AMR AF: 0.686

Gnomad ASJ AF: 0.699

Gnomad EAS AF: 0.899

Gnomad SAS AF: 0.743

Gnomad FIN AF: 0.541

Gnomad MID AF: 0.655

Gnomad NFE AF: 0.551

Gnomad OTH AF: 0.606

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

GnomAD4 genome AF: 0.571 AC: 86706 AN: 151978 Hom.: 25435 Cov.: 31 AF XY: 0.578 AC XY: 42950 AN XY: 74274

Gnomad4 AFR AF: 0.492

Gnomad4 AMR AF: 0.687

Gnomad4 ASJ AF: 0.699

Gnomad4 EAS AF: 0.899

Gnomad4 SAS AF: 0.745

Gnomad4 FIN AF: 0.541

Gnomad4 NFE AF: 0.551

Gnomad4 OTH AF: 0.610

Alfa AF: 0.572 Hom.: 24853

Bravo AF: 0.579

Asia WGS AF: 0.811 AC: 2822 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.69
DANN	Benign	0.72

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7592330; hg19: chr2-68646783;