18-77184858-G-A

Variant names:

• chr18-77184858-G-A
• rs1015820
• ENST00000584843.1:n.96-326G>A

Variant summary

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

The ENST00000584843.1(ENSG00000265844):​n.96-326G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.406 in 152,080 control chromosomes in the GnomAD database, including 13,842 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 0.41 (13842 hom., cov: 32)
• Consequence: ENSG00000265844 ENST00000584843.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.529
• Publications: 2 publications found

Genes affected

ENSG00000265844 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.78).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.503 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
ENSG00000265844	ENST00000584843.1	n.96-326G>A		intron_variant	Intron 1 of 4	4
ENSG00000265844	ENST00000843890.1	n.301-326G>A		intron_variant	Intron 1 of 3

Frequencies

GnomAD3 genomes AF: 0.407 AC: 61783 AN: 151962 Hom.: 13840 Cov.: 32

Gnomad AFR AF: 0.212

Gnomad AMI AF: 0.318

Gnomad AMR AF: 0.410

Gnomad ASJ AF: 0.469

Gnomad EAS AF: 0.494

Gnomad SAS AF: 0.417

Gnomad FIN AF: 0.452

Gnomad MID AF: 0.465

Gnomad NFE AF: 0.507

Gnomad OTH AF: 0.430

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

GnomAD4 genome AF: 0.406 AC: 61781 AN: 152080 Hom.: 13842 Cov.: 32 AF XY: 0.405 AC XY: 30089 AN XY: 74308

African (AFR) AF: 0.211 AC: 8771 AN: 41476

American (AMR) AF: 0.410 AC: 6267 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.469 AC: 1629 AN: 3470

East Asian (EAS) AF: 0.493 AC: 2553 AN: 5176

South Asian (SAS) AF: 0.415 AC: 2003 AN: 4828

European-Finnish (FIN) AF: 0.452 AC: 4769 AN: 10562

Middle Eastern (MID) AF: 0.480 AC: 141 AN: 294

European-Non Finnish (NFE) AF: 0.507 AC: 34462 AN: 67970

Other (OTH) AF: 0.425 AC: 898 AN: 2112

Alfa AF: 0.479 Hom.: 71901

Bravo AF: 0.399

Asia WGS AF: 0.414 AC: 1440 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.78
CADD	Benign	5.3
DANN	Benign	0.56
PhyloP100		0.53

Splicing

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

Other links and lift over

dbSNP: rs1015820; hg19: chr18-74896814;