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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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

Gnomad4 AFR AF: 0.780

Gnomad4 AMR AF: 0.701

Gnomad4 ASJ AF: 0.514

Gnomad4 EAS AF: 0.765

Gnomad4 SAS AF: 0.600

Gnomad4 FIN AF: 0.594

Gnomad4 NFE AF: 0.597

Gnomad4 OTH AF: 0.661

Alfa AF: 0.611 Hom.: 59678

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs206136; hg19: chr13-32877321;