rs7492028

Variant names:

• chr13-96916842-C-G
• rs7492028

Your query was ambiguous. Multiple possible variants found:

• chr13-96916842-C-G
• chr13-96916842-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 0.261 in 152,072 control chromosomes in the GnomAD database, including 11,014 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 0.26 (11014 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.505

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.04).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.697 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: 0.260 AC: 39536 AN: 151954 Hom.: 10981 Cov.: 32

Gnomad AFR AF: 0.704

Gnomad AMI AF: 0.0800

Gnomad AMR AF: 0.146

Gnomad ASJ AF: 0.0874

Gnomad EAS AF: 0.0270

Gnomad SAS AF: 0.0668

Gnomad FIN AF: 0.0433

Gnomad MID AF: 0.169

Gnomad NFE AF: 0.0939

Gnomad OTH AF: 0.227

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

GnomAD4 genome AF: 0.261 AC: 39627 AN: 152072 Hom.: 11014 Cov.: 32 AF XY: 0.252 AC XY: 18743 AN XY: 74340

Gnomad4 AFR AF: 0.704

Gnomad4 AMR AF: 0.145

Gnomad4 ASJ AF: 0.0874

Gnomad4 EAS AF: 0.0269

Gnomad4 SAS AF: 0.0673

Gnomad4 FIN AF: 0.0433

Gnomad4 NFE AF: 0.0939

Gnomad4 OTH AF: 0.224

Alfa AF: 0.0277 Hom.: 25

Bravo AF: 0.287

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.36
DANN	Benign	0.18

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7492028; hg19: chr13-97569096;