rs11196335

Variant names:

• chr10-113449943-T-A
• rs11196335

Your query was ambiguous. Multiple possible variants found:

• chr10-113449943-T-A
• chr10-113449943-T-C
• chr10-113449943-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 0.218 in 152,056 control chromosomes in the GnomAD database, including 3,829 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 0.22 (3829 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.613

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.246 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: 0.218 AC: 33127 AN: 151938 Hom.: 3830 Cov.: 32

Gnomad AFR AF: 0.171

Gnomad AMI AF: 0.195

Gnomad AMR AF: 0.187

Gnomad ASJ AF: 0.289

Gnomad EAS AF: 0.237

Gnomad SAS AF: 0.166

Gnomad FIN AF: 0.228

Gnomad MID AF: 0.373

Gnomad NFE AF: 0.249

Gnomad OTH AF: 0.246

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

GnomAD4 genome AF: 0.218 AC: 33135 AN: 152056 Hom.: 3829 Cov.: 32 AF XY: 0.215 AC XY: 15986 AN XY: 74326

Gnomad4 AFR AF: 0.171

Gnomad4 AMR AF: 0.187

Gnomad4 ASJ AF: 0.289

Gnomad4 EAS AF: 0.236

Gnomad4 SAS AF: 0.165

Gnomad4 FIN AF: 0.228

Gnomad4 NFE AF: 0.249

Gnomad4 OTH AF: 0.245

Alfa AF: 0.118 Hom.: 193

Bravo AF: 0.213

Asia WGS AF: 0.191 AC: 665 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	0.96
DANN	Benign	0.78

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11196335; hg19: chr10-115209702;