rs206136

Variant names:

• chr13-32303184-G-A
• rs206136

Your query was ambiguous. Multiple possible variants found:

• chr13-32303184-G-A
• chr13-32303184-G-C
• chr13-32303184-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 0.662 in 152,048 control chromosomes in the GnomAD database, including 34,029 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 0.66 (34029 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.129
• Publications: 7 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.773 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: 0.662 AC: 100605 AN: 151930 Hom.: 33994 Cov.: 32

Gnomad AFR AF: 0.780

Gnomad AMI AF: 0.637

Gnomad AMR AF: 0.700

Gnomad ASJ AF: 0.514

Gnomad EAS AF: 0.765

Gnomad SAS AF: 0.600

Gnomad FIN AF: 0.594

Gnomad MID AF: 0.674

Gnomad NFE AF: 0.597

Gnomad OTH AF: 0.664

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

GnomAD4 genome AF: 0.662 AC: 100696 AN: 152048 Hom.: 34029 Cov.: 32 AF XY: 0.662 AC XY: 49222 AN XY: 74306

African (AFR) AF: 0.780 AC: 32357 AN: 41486

American (AMR) AF: 0.701 AC: 10720 AN: 15300

Ashkenazi Jewish (ASJ) AF: 0.514 AC: 1785 AN: 3470

East Asian (EAS) AF: 0.765 AC: 3959 AN: 5172

South Asian (SAS) AF: 0.600 AC: 2887 AN: 4812

European-Finnish (FIN) AF: 0.594 AC: 6248 AN: 10524

Middle Eastern (MID) AF: 0.687 AC: 202 AN: 294

European-Non Finnish (NFE) AF: 0.597 AC: 40562 AN: 67968

Other (OTH) AF: 0.661 AC: 1396 AN: 2112

Alfa AF: 0.621 Hom.: 133300

Bravo AF: 0.682

Asia WGS AF: 0.663 AC: 2303 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	2.4
DANN	Benign	0.46
PhyloP100		0.13

Splicing

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

Other links and lift over

dbSNP: rs206136; hg19: chr13-32877321;