rs836132

Variant names:

• chr11-34533644-G-A
• rs836132
• ENST00000527984.1:n.237-478C>T

Your query was ambiguous. Multiple possible variants found:

• chr11-34533644-G-A
• chr11-34533644-G-C
• chr11-34533644-G-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000527984.1(ENSG00000255271):​n.237-478C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.126 in 148,544 control chromosomes in the GnomAD database, including 1,426 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 0.13 (1426 hom., cov: 27)
• Consequence: ENSG00000255271 ENST00000527984.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.00

Genes affected

ENSG00000255271 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.387 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
ENSG00000255271	ENST00000527984.1	n.237-478C>T		intron_variant	Intron 2 of 2	2

Frequencies

GnomAD3 genomes AF: 0.126 AC: 18652 AN: 148426 Hom.: 1421 Cov.: 27

Gnomad AFR AF: 0.129

Gnomad AMI AF: 0.104

Gnomad AMR AF: 0.133

Gnomad ASJ AF: 0.0948

Gnomad EAS AF: 0.401

Gnomad SAS AF: 0.0860

Gnomad FIN AF: 0.0508

Gnomad MID AF: 0.0949

Gnomad NFE AF: 0.117

Gnomad OTH AF: 0.142

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

GnomAD4 genome AF: 0.126 AC: 18677 AN: 148544 Hom.: 1426 Cov.: 27 AF XY: 0.124 AC XY: 8963 AN XY: 72242

Gnomad4 AFR AF: 0.129

Gnomad4 AMR AF: 0.133

Gnomad4 ASJ AF: 0.0948

Gnomad4 EAS AF: 0.401

Gnomad4 SAS AF: 0.0860

Gnomad4 FIN AF: 0.0508

Gnomad4 NFE AF: 0.117

Gnomad4 OTH AF: 0.147

Alfa AF: 0.124 Hom.: 2570

Bravo AF: 0.137

Asia WGS AF: 0.231 AC: 803 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.49
DANN	Benign	0.55

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs836132; hg19: chr11-34555191;