rs1814343

Variant names:

• chr11-129695357-C-T
• rs1814343

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 0.225 in 152,216 control chromosomes in the GnomAD database, including 4,679 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 (4679 hom., cov: 34)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.12
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.473 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.225 AC: 34159 AN: 152098 Hom.: 4680 Cov.: 34

Gnomad AFR AF: 0.0888

Gnomad AMI AF: 0.400

Gnomad AMR AF: 0.261

Gnomad ASJ AF: 0.221

Gnomad EAS AF: 0.489

Gnomad SAS AF: 0.292

Gnomad FIN AF: 0.385

Gnomad MID AF: 0.146

Gnomad NFE AF: 0.248

Gnomad OTH AF: 0.204

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

GnomAD4 genome AF: 0.225 AC: 34173 AN: 152216 Hom.: 4679 Cov.: 34 AF XY: 0.236 AC XY: 17592 AN XY: 74390

African (AFR) AF: 0.0889 AC: 3695 AN: 41564

American (AMR) AF: 0.261 AC: 3995 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.221 AC: 766 AN: 3470

East Asian (EAS) AF: 0.489 AC: 2523 AN: 5158

South Asian (SAS) AF: 0.292 AC: 1412 AN: 4828

European-Finnish (FIN) AF: 0.385 AC: 4076 AN: 10588

Middle Eastern (MID) AF: 0.143 AC: 42 AN: 294

European-Non Finnish (NFE) AF: 0.248 AC: 16869 AN: 67994

Other (OTH) AF: 0.204 AC: 431 AN: 2112

Alfa AF: 0.233 Hom.: 7289

Bravo AF: 0.208

Asia WGS AF: 0.350 AC: 1216 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.17
DANN	Benign	0.53
PhyloP100		-1.1

Splicing

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

Other links and lift over

dbSNP: rs1814343; hg19: chr11-129565252;