chr18-60373391-G-A

Position:

• chr18-60373391-G-A

Variant summary

Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_Strong BP6 BA1

The ENST00000658928.1(ENSG00000285681):​n.156+44046G>A variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0757 in 152,052 control chromosomes in the GnomAD database, including 752 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in Lovd as Likely benign (no stars).

• Frequency: Genomes: 𝑓 0.076 (752 hom., cov: 32)
• Consequence: ENST00000658928.1 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.943

Genes affected

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -13 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BP6: Variant 18-60373391-G-A is Benign according to our data. Variant chr18-60373391-G-A is described in Lovd as [Likely_benign].
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.179 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
	ENST00000658928.1	n.156+44046G>A		intron_variant, non_coding_transcript_variant
	ENST00000650201.1	n.113+44046G>A		intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes AF: 0.0757 AC: 11497 AN: 151940 Hom.: 748 Cov.: 32

Gnomad AFR AF: 0.182

Gnomad AMI AF: 0.0581

Gnomad AMR AF: 0.0369

Gnomad ASJ AF: 0.0240

Gnomad EAS AF: 0.0201

Gnomad SAS AF: 0.0349

Gnomad FIN AF: 0.0245

Gnomad MID AF: 0.0316

Gnomad NFE AF: 0.0379

Gnomad OTH AF: 0.0669

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

GnomAD4 genome AF: 0.0757 AC: 11512 AN: 152052 Hom.: 752 Cov.: 32 AF XY: 0.0743 AC XY: 5527 AN XY: 74342

Gnomad4 AFR AF: 0.182

Gnomad4 AMR AF: 0.0368

Gnomad4 ASJ AF: 0.0240

Gnomad4 EAS AF: 0.0199

Gnomad4 SAS AF: 0.0339

Gnomad4 FIN AF: 0.0245

Gnomad4 NFE AF: 0.0379

Gnomad4 OTH AF: 0.0662

Alfa AF: 0.0780 Hom.: 123

Bravo AF: 0.0817

Asia WGS AF: 0.0270 AC: 93 AN: 3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	3.8
DANN	Benign	0.34

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17066842; hg19: chr18-58040624;