rs7182710

Variant names:

• chr15-48812737-A-T
• rs7182710

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 0.412 in 152,058 control chromosomes in the GnomAD database, including 13,463 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 0.41 (13463 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.61

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.467 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: 0.413 AC: 62697 AN: 151940 Hom.: 13461 Cov.: 32

Gnomad AFR AF: 0.326

Gnomad AMI AF: 0.555

Gnomad AMR AF: 0.414

Gnomad ASJ AF: 0.554

Gnomad EAS AF: 0.331

Gnomad SAS AF: 0.370

Gnomad FIN AF: 0.364

Gnomad MID AF: 0.459

Gnomad NFE AF: 0.471

Gnomad OTH AF: 0.460

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

GnomAD4 genome AF: 0.412 AC: 62710 AN: 152058 Hom.: 13463 Cov.: 32 AF XY: 0.406 AC XY: 30151 AN XY: 74328

Gnomad4 AFR AF: 0.326

Gnomad4 AMR AF: 0.413

Gnomad4 ASJ AF: 0.554

Gnomad4 EAS AF: 0.332

Gnomad4 SAS AF: 0.370

Gnomad4 FIN AF: 0.364

Gnomad4 NFE AF: 0.471

Gnomad4 OTH AF: 0.456

Alfa AF: 0.433 Hom.: 1844

Bravo AF: 0.415

Asia WGS AF: 0.294 AC: 1026 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	5.6
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: rs7182710; hg19: chr15-49104934;