rs1834460

Variant names:

• chr11-35074018-T-C
• rs1834460

Your query was ambiguous. Multiple possible variants found:

• chr11-35074018-T-C
• chr11-35074018-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 0.511 in 151,824 control chromosomes in the GnomAD database, including 20,727 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 0.51 (20727 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.29

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• 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: 0.511 AC: 77509 AN: 151706 Hom.: 20722 Cov.: 31

Gnomad AFR AF: 0.352

Gnomad AMI AF: 0.568

Gnomad AMR AF: 0.601

Gnomad ASJ AF: 0.610

Gnomad EAS AF: 0.755

Gnomad SAS AF: 0.691

Gnomad FIN AF: 0.514

Gnomad MID AF: 0.604

Gnomad NFE AF: 0.548

Gnomad OTH AF: 0.541

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

GnomAD4 genome AF: 0.511 AC: 77530 AN: 151824 Hom.: 20727 Cov.: 31 AF XY: 0.516 AC XY: 38278 AN XY: 74182

Gnomad4 AFR AF: 0.352

Gnomad4 AMR AF: 0.601

Gnomad4 ASJ AF: 0.610

Gnomad4 EAS AF: 0.754

Gnomad4 SAS AF: 0.690

Gnomad4 FIN AF: 0.514

Gnomad4 NFE AF: 0.548

Gnomad4 OTH AF: 0.544

Alfa AF: 0.400 Hom.: 1158

Bravo AF: 0.508

Asia WGS AF: 0.686 AC: 2387 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.61
DANN	Benign	0.47

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1834460; hg19: chr11-35095565;