rs13212283

Variant names:

• chr6-113930971-A-G
• rs13212283

Your query was ambiguous. Multiple possible variants found:

• chr6-113930971-A-G
• chr6-113930971-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 0.405 in 151,850 control chromosomes in the GnomAD database, including 13,211 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 (13211 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.632

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.638 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: 0.405 AC: 61473 AN: 151732 Hom.: 13195 Cov.: 30

Gnomad AFR AF: 0.264

Gnomad AMI AF: 0.421

Gnomad AMR AF: 0.394

Gnomad ASJ AF: 0.493

Gnomad EAS AF: 0.656

Gnomad SAS AF: 0.499

Gnomad FIN AF: 0.421

Gnomad MID AF: 0.475

Gnomad NFE AF: 0.459

Gnomad OTH AF: 0.425

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

GnomAD4 genome AF: 0.405 AC: 61507 AN: 151850 Hom.: 13211 Cov.: 30 AF XY: 0.406 AC XY: 30132 AN XY: 74204

Gnomad4 AFR AF: 0.264

Gnomad4 AMR AF: 0.394

Gnomad4 ASJ AF: 0.493

Gnomad4 EAS AF: 0.657

Gnomad4 SAS AF: 0.500

Gnomad4 FIN AF: 0.421

Gnomad4 NFE AF: 0.459

Gnomad4 OTH AF: 0.431

Alfa AF: 0.379 Hom.: 2470

Bravo AF: 0.398

Asia WGS AF: 0.588 AC: 2041 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	1.4
DANN	Benign	0.79

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs13212283; hg19: chr6-114252135;