rs13270196

Variant names:

• chr8-139295939-G-A
• rs13270196

Your query was ambiguous. Multiple possible variants found:

• chr8-139295939-G-A
• chr8-139295939-G-C
• chr8-139295939-G-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.871 in 152,240 control chromosomes in the GnomAD database, including 58,398 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 0.87 (58398 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.830
• Publications: 0 publications found

ACMG classification

Our verdict: Benign. The variant received -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 = 0.945 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: 0.871 AC: 132570 AN: 152122 Hom.: 58363 Cov.: 32

Gnomad AFR AF: 0.731

Gnomad AMI AF: 0.914

Gnomad AMR AF: 0.926

Gnomad ASJ AF: 0.895

Gnomad EAS AF: 0.968

Gnomad SAS AF: 0.907

Gnomad FIN AF: 0.927

Gnomad MID AF: 0.896

Gnomad NFE AF: 0.924

Gnomad OTH AF: 0.897

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

GnomAD4 genome AF: 0.871 AC: 132657 AN: 152240 Hom.: 58398 Cov.: 32 AF XY: 0.873 AC XY: 64963 AN XY: 74436

African (AFR) AF: 0.730 AC: 30318 AN: 41508

American (AMR) AF: 0.926 AC: 14174 AN: 15308

Ashkenazi Jewish (ASJ) AF: 0.895 AC: 3108 AN: 3472

East Asian (EAS) AF: 0.968 AC: 5004 AN: 5172

South Asian (SAS) AF: 0.908 AC: 4378 AN: 4824

European-Finnish (FIN) AF: 0.927 AC: 9834 AN: 10608

Middle Eastern (MID) AF: 0.891 AC: 262 AN: 294

European-Non Finnish (NFE) AF: 0.924 AC: 62845 AN: 68028

Other (OTH) AF: 0.899 AC: 1900 AN: 2114

Alfa AF: 0.914 Hom.: 184271

Bravo AF: 0.867

Asia WGS AF: 0.926 AC: 3218 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	1.3
DANN	Benign	0.75
PhyloP100		-0.83

Splicing

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

Other links and lift over

dbSNP: rs13270196; hg19: chr8-140308182;