rs2732546

Variant names:

• chr11-35067538-T-C
• rs2732546

Your query was ambiguous. Multiple possible variants found:

• chr11-35067538-T-C
• chr11-35067538-T-G

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 0.496 in 151,920 control chromosomes in the GnomAD database, including 20,153 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 0.50 (20153 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.300

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.734 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: 0.496 AC: 75272 AN: 151802 Hom.: 20150 Cov.: 31

Gnomad AFR AF: 0.280

Gnomad AMI AF: 0.569

Gnomad AMR AF: 0.599

Gnomad ASJ AF: 0.614

Gnomad EAS AF: 0.754

Gnomad SAS AF: 0.690

Gnomad FIN AF: 0.522

Gnomad MID AF: 0.620

Gnomad NFE AF: 0.558

Gnomad OTH AF: 0.534

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

GnomAD4 genome AF: 0.496 AC: 75279 AN: 151920 Hom.: 20153 Cov.: 31 AF XY: 0.501 AC XY: 37225 AN XY: 74258

Gnomad4 AFR AF: 0.279

Gnomad4 AMR AF: 0.600

Gnomad4 ASJ AF: 0.614

Gnomad4 EAS AF: 0.753

Gnomad4 SAS AF: 0.689

Gnomad4 FIN AF: 0.522

Gnomad4 NFE AF: 0.558

Gnomad4 OTH AF: 0.538

Alfa AF: 0.396 Hom.: 1184

Bravo AF: 0.490

Asia WGS AF: 0.685 AC: 2381 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	5.0
DANN	Benign	0.66

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2732546; hg19: chr11-35089085;