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. The variant received -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
• Publications: 3 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.171 AC: 7104 AN: 41470

American (AMR) AF: 0.187 AC: 2855 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.289 AC: 1001 AN: 3468

East Asian (EAS) AF: 0.236 AC: 1224 AN: 5180

South Asian (SAS) AF: 0.165 AC: 796 AN: 4816

European-Finnish (FIN) AF: 0.228 AC: 2417 AN: 10590

Middle Eastern (MID) AF: 0.367 AC: 108 AN: 294

European-Non Finnish (NFE) AF: 0.249 AC: 16937 AN: 67946

Other (OTH) AF: 0.245 AC: 516 AN: 2110

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
PhyloP100		-0.61

Splicing

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

Other links and lift over

dbSNP: rs11196335; hg19: chr10-115209702;