rs7133868

Variant names:

• chr12-132169401-T-A
• rs7133868

Your query was ambiguous. Multiple possible variants found:

• chr12-132169401-T-A
• chr12-132169401-T-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

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 0.11 (850 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.48

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.59).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.148 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: 0.112 AC: 5578 AN: 49598 Hom.: 849 Cov.: 0

Gnomad AFR AF: 0.157

Gnomad AMI AF: 0.128

Gnomad AMR AF: 0.0781

Gnomad ASJ AF: 0.0419

Gnomad EAS AF: 0.0373

Gnomad SAS AF: 0.0848

Gnomad FIN AF: 0.0932

Gnomad MID AF: 0.121

Gnomad NFE AF: 0.128

Gnomad OTH AF: 0.110

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

GnomAD4 genome AF: 0.112 AC: 5580 AN: 49604 Hom.: 850 Cov.: 0 AF XY: 0.106 AC XY: 2590 AN XY: 24482

Gnomad4 AFR AF: 0.156

Gnomad4 AMR AF: 0.0778

Gnomad4 ASJ AF: 0.0419

Gnomad4 EAS AF: 0.0374

Gnomad4 SAS AF: 0.0858

Gnomad4 FIN AF: 0.0932

Gnomad4 NFE AF: 0.128

Gnomad4 OTH AF: 0.112

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.59
CADD	Benign	4.0
DANN	Benign	0.46

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7133868; hg19: chr12-132653946;