rs11036434

Variant names:

• chr11-41514419-A-G
• rs11036434
• ENST00000816184.1:n.249+29314A>G

Your query was ambiguous. Multiple possible variants found:

• chr11-41514419-A-G
• chr11-41514419-A-T

Variant summary

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

The ENST00000816184.1(ENSG00000306191):​n.249+29314A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.344 in 151,852 control chromosomes in the GnomAD database, including 9,399 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 0.34 (9399 hom., cov: 31)
• Consequence: ENSG00000306191 ENST00000816184.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.181
• Publications: 3 publications found

Genes affected

ENSG00000306191 (HGNC:):

ACMG classification

Our verdict: Benign. The variant received -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 = 0.655 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000816184.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

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

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000306191	ENST00000816184.1		n.249+29314A>G		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.344 AC: 52237 AN: 151740 Hom.: 9405 Cov.: 31

Gnomad AFR AF: 0.286

Gnomad AMI AF: 0.316

Gnomad AMR AF: 0.302

Gnomad ASJ AF: 0.343

Gnomad EAS AF: 0.674

Gnomad SAS AF: 0.488

Gnomad FIN AF: 0.447

Gnomad MID AF: 0.312

Gnomad NFE AF: 0.339

Gnomad OTH AF: 0.335

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

GnomAD4 genome AF: 0.344 AC: 52259 AN: 151852 Hom.: 9399 Cov.: 31 AF XY: 0.353 AC XY: 26174 AN XY: 74212

African (AFR) AF: 0.286 AC: 11840 AN: 41398

American (AMR) AF: 0.302 AC: 4615 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.343 AC: 1189 AN: 3470

East Asian (EAS) AF: 0.673 AC: 3474 AN: 5160

South Asian (SAS) AF: 0.488 AC: 2343 AN: 4804

European-Finnish (FIN) AF: 0.447 AC: 4689 AN: 10496

Middle Eastern (MID) AF: 0.308 AC: 90 AN: 292

European-Non Finnish (NFE) AF: 0.339 AC: 23026 AN: 67950

Other (OTH) AF: 0.335 AC: 705 AN: 2106

Alfa AF: 0.332 Hom.: 10880

Bravo AF: 0.331

Asia WGS AF: 0.540 AC: 1879 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.52
DANN	Benign	0.36
PhyloP100		-0.18

Splicing

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

Other links and lift over

dbSNP: rs11036434; hg19: chr11-41535969;