rs1834459

Variant names:

• chr11-35071223-G-A
• rs1834459
• ENST00000747995.1:n.136+8384G>A

Your query was ambiguous. Multiple possible variants found:

• chr11-35071223-G-A
• chr11-35071223-G-C
• chr11-35071223-G-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000747995.1(ENSG00000297460):​n.136+8384G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.663 in 151,898 control chromosomes in the GnomAD database, including 34,572 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 0.66 (34572 hom., cov: 31)
• Consequence: ENSG00000297460 ENST00000747995.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.17
• Publications: 3 publications found

Genes affected

ENSG00000297460 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.832 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
ENSG00000297460	ENST00000747995.1	n.136+8384G>A		intron_variant	Intron 2 of 4
ENSG00000297460	ENST00000747996.1	n.85-17215G>A		intron_variant	Intron 1 of 2
ENSG00000297460	ENST00000747997.1	n.84-17215G>A		intron_variant	Intron 1 of 3

Frequencies

GnomAD3 genomes AF: 0.663 AC: 100604 AN: 151778 Hom.: 34525 Cov.: 31

Gnomad AFR AF: 0.839

Gnomad AMI AF: 0.568

Gnomad AMR AF: 0.665

Gnomad ASJ AF: 0.638

Gnomad EAS AF: 0.791

Gnomad SAS AF: 0.782

Gnomad FIN AF: 0.539

Gnomad MID AF: 0.718

Gnomad NFE AF: 0.558

Gnomad OTH AF: 0.671

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

GnomAD4 genome AF: 0.663 AC: 100705 AN: 151898 Hom.: 34572 Cov.: 31 AF XY: 0.666 AC XY: 49447 AN XY: 74208

African (AFR) AF: 0.839 AC: 34804 AN: 41474

American (AMR) AF: 0.665 AC: 10162 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.638 AC: 2213 AN: 3466

East Asian (EAS) AF: 0.790 AC: 4080 AN: 5166

South Asian (SAS) AF: 0.781 AC: 3752 AN: 4806

European-Finnish (FIN) AF: 0.539 AC: 5662 AN: 10504

Middle Eastern (MID) AF: 0.707 AC: 208 AN: 294

European-Non Finnish (NFE) AF: 0.558 AC: 37888 AN: 67904

Other (OTH) AF: 0.674 AC: 1421 AN: 2108

Alfa AF: 0.605 Hom.: 3386

Bravo AF: 0.677

Asia WGS AF: 0.774 AC: 2691 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.77
DANN	Benign	0.63
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs1834459; hg19: chr11-35092770;