rs7792457

Variant names:

• chr7-21152762-C-A
• rs7792457

Your query was ambiguous. Multiple possible variants found:

• chr7-21152762-C-A
• chr7-21152762-C-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 0.121 in 151,892 control chromosomes in the GnomAD database, including 1,528 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 0.12 (1528 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00700

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.228 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: 0.121 AC: 18390 AN: 151774 Hom.: 1526 Cov.: 32

Gnomad AFR AF: 0.232

Gnomad AMI AF: 0.0493

Gnomad AMR AF: 0.0808

Gnomad ASJ AF: 0.0905

Gnomad EAS AF: 0.152

Gnomad SAS AF: 0.0397

Gnomad FIN AF: 0.0414

Gnomad MID AF: 0.0665

Gnomad NFE AF: 0.0821

Gnomad OTH AF: 0.105

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

GnomAD4 genome AF: 0.121 AC: 18408 AN: 151892 Hom.: 1528 Cov.: 32 AF XY: 0.117 AC XY: 8654 AN XY: 74212

Gnomad4 AFR AF: 0.232

Gnomad4 AMR AF: 0.0808

Gnomad4 ASJ AF: 0.0905

Gnomad4 EAS AF: 0.151

Gnomad4 SAS AF: 0.0396

Gnomad4 FIN AF: 0.0414

Gnomad4 NFE AF: 0.0821

Gnomad4 OTH AF: 0.104

Alfa AF: 0.0871 Hom.: 308

Bravo AF: 0.129

Asia WGS AF: 0.0990 AC: 344 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	1.1
DANN	Benign	0.30

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7792457; hg19: chr7-21192381;