rs7137515

Variant names:

• chr12-82068447-A-G
• rs7137515

Your query was ambiguous. Multiple possible variants found:

• chr12-82068447-A-G
• chr12-82068447-A-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 0.35 in 152,068 control chromosomes in the GnomAD database, including 9,792 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 0.35 (9792 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.178

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 = 0.464 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: 0.350 AC: 53173 AN: 151950 Hom.: 9780 Cov.: 33

Gnomad AFR AF: 0.470

Gnomad AMI AF: 0.414

Gnomad AMR AF: 0.335

Gnomad ASJ AF: 0.262

Gnomad EAS AF: 0.250

Gnomad SAS AF: 0.263

Gnomad FIN AF: 0.317

Gnomad MID AF: 0.316

Gnomad NFE AF: 0.303

Gnomad OTH AF: 0.359

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

GnomAD4 genome AF: 0.350 AC: 53220 AN: 152068 Hom.: 9792 Cov.: 33 AF XY: 0.347 AC XY: 25827 AN XY: 74354

Gnomad4 AFR AF: 0.470

Gnomad4 AMR AF: 0.336

Gnomad4 ASJ AF: 0.262

Gnomad4 EAS AF: 0.250

Gnomad4 SAS AF: 0.265

Gnomad4 FIN AF: 0.317

Gnomad4 NFE AF: 0.302

Gnomad4 OTH AF: 0.359

Alfa AF: 0.191 Hom.: 392

Bravo AF: 0.360

Asia WGS AF: 0.289 AC: 1005 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	3.3
DANN	Benign	0.68

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7137515; hg19: chr12-82462226;