ENST00000648353.1:n.526-10621G>A

Variant names:

• chr11-95734098-G-A
• rs10831417
• ENST00000648353.1:n.526-10621G>A

Variant summary

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

The ENST00000648353.1(ENSG00000285842):​n.526-10621G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.297 in 152,010 control chromosomes in the GnomAD database, including 8,066 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 0.30 (8066 hom., cov: 31)
• Consequence: ENSG00000285842 ENST00000648353.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.749
• Publications: 3 publications found

Genes affected

ENSG00000285842 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.402 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
ENSG00000285842	ENST00000648353.1	n.526-10621G>A		intron_variant	Intron 3 of 4

Frequencies

GnomAD3 genomes AF: 0.297 AC: 45175 AN: 151890 Hom.: 8062 Cov.: 31

Gnomad AFR AF: 0.111

Gnomad AMI AF: 0.417

Gnomad AMR AF: 0.286

Gnomad ASJ AF: 0.455

Gnomad EAS AF: 0.224

Gnomad SAS AF: 0.142

Gnomad FIN AF: 0.384

Gnomad MID AF: 0.236

Gnomad NFE AF: 0.406

Gnomad OTH AF: 0.338

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

GnomAD4 genome AF: 0.297 AC: 45183 AN: 152010 Hom.: 8066 Cov.: 31 AF XY: 0.292 AC XY: 21693 AN XY: 74276

African (AFR) AF: 0.111 AC: 4587 AN: 41480

American (AMR) AF: 0.285 AC: 4345 AN: 15254

Ashkenazi Jewish (ASJ) AF: 0.455 AC: 1579 AN: 3468

East Asian (EAS) AF: 0.225 AC: 1164 AN: 5174

South Asian (SAS) AF: 0.142 AC: 684 AN: 4820

European-Finnish (FIN) AF: 0.384 AC: 4040 AN: 10532

Middle Eastern (MID) AF: 0.241 AC: 71 AN: 294

European-Non Finnish (NFE) AF: 0.406 AC: 27607 AN: 67970

Other (OTH) AF: 0.345 AC: 726 AN: 2106

Alfa AF: 0.258 Hom.: 1968

Bravo AF: 0.285

Asia WGS AF: 0.201 AC: 699 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	0.64
DANN	Benign	0.69
PhyloP100		-0.75

Splicing

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

Other links and lift over

dbSNP: rs10831417; hg19: chr11-95467262;