rs7301155

chr12-57229038-G-Achr12-57229038-G-Cchr12-57229038-G-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 0.679 in 151,932 control chromosomes in the GnomAD database, including 35,216 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 0.68 (35216 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.205

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.742 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.679 AC: 103051 AN: 151814 Hom.: 35184 Cov.: 30

Gnomad AFR AF: 0.723

Gnomad AMI AF: 0.608

Gnomad AMR AF: 0.619

Gnomad ASJ AF: 0.656

Gnomad EAS AF: 0.576

Gnomad SAS AF: 0.764

Gnomad FIN AF: 0.648

Gnomad MID AF: 0.630

Gnomad NFE AF: 0.675

Gnomad OTH AF: 0.660

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

GnomAD4 genome AF: 0.679 AC: 103129 AN: 151932 Hom.: 35216 Cov.: 30 AF XY: 0.678 AC XY: 50330 AN XY: 74226

Gnomad4 AFR AF: 0.723

Gnomad4 AMR AF: 0.619

Gnomad4 ASJ AF: 0.656

Gnomad4 EAS AF: 0.577

Gnomad4 SAS AF: 0.762

Gnomad4 FIN AF: 0.648

Gnomad4 NFE AF: 0.675

Gnomad4 OTH AF: 0.664

Alfa AF: 0.660 Hom.: 14526

Bravo AF: 0.667

Asia WGS AF: 0.643 AC: 2238 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
Cadd	Benign	5.1
Dann	Benign	0.62

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7301155; hg19: chr12-57622821;