11-30221700-T-G

Variant names:

• chr11-30221700-T-G
• rs543401
• ENST00000527819.2:n.471-64847A>C

Variant summary

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

The ENST00000527819.2(ARL14EP-DT):​n.471-64847A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.493 in 151,874 control chromosomes in the GnomAD database, including 18,650 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 0.49 (18650 hom., cov: 32)
• Consequence: ARL14EP-DT ENST00000527819.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.506
• Publications: 4 publications found

Genes affected

ARL14EP-DT (HGNC:55517): (ARL14EP divergent transcript)

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.654 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
ARL14EP-DT	NR_187431.1	n.250+95190A>C		intron_variant	Intron 3 of 3
ARL14EP-DT	NR_187432.1	n.429+95190A>C		intron_variant	Intron 3 of 3
ARL14EP-DT	NR_187433.1	n.250+95190A>C		intron_variant	Intron 3 of 4

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ARL14EP-DT	ENST00000527819.2	n.471-64847A>C		intron_variant	Intron 3 of 5	3
ARL14EP-DT	ENST00000662729.1	n.293-64847A>C		intron_variant	Intron 3 of 4
ARL14EP-DT	ENST00000726808.1	n.517-64847A>C		intron_variant	Intron 3 of 4
ARL14EP-DT	ENST00000726809.1	n.375-60652A>C		intron_variant	Intron 3 of 3

Frequencies

GnomAD3 genomes AF: 0.493 AC: 74777 AN: 151756 Hom.: 18638 Cov.: 32

Gnomad AFR AF: 0.555

Gnomad AMI AF: 0.298

Gnomad AMR AF: 0.519

Gnomad ASJ AF: 0.466

Gnomad EAS AF: 0.673

Gnomad SAS AF: 0.569

Gnomad FIN AF: 0.514

Gnomad MID AF: 0.528

Gnomad NFE AF: 0.431

Gnomad OTH AF: 0.472

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

GnomAD4 genome AF: 0.493 AC: 74826 AN: 151874 Hom.: 18650 Cov.: 32 AF XY: 0.500 AC XY: 37074 AN XY: 74210

African (AFR) AF: 0.554 AC: 22966 AN: 41418

American (AMR) AF: 0.519 AC: 7913 AN: 15248

Ashkenazi Jewish (ASJ) AF: 0.466 AC: 1617 AN: 3472

East Asian (EAS) AF: 0.673 AC: 3480 AN: 5170

South Asian (SAS) AF: 0.569 AC: 2740 AN: 4812

European-Finnish (FIN) AF: 0.514 AC: 5413 AN: 10530

Middle Eastern (MID) AF: 0.527 AC: 155 AN: 294

European-Non Finnish (NFE) AF: 0.431 AC: 29282 AN: 67914

Other (OTH) AF: 0.469 AC: 989 AN: 2108

Alfa AF: 0.458 Hom.: 44261

Bravo AF: 0.496

Asia WGS AF: 0.570 AC: 1981 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.69
DANN	Benign	0.40
PhyloP100		-0.51

Splicing

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

Other links and lift over

dbSNP: rs543401; hg19: chr11-30243247;