rs10503018

Variant names:

• chr18-57508517-G-A
• rs10503018

Your query was ambiguous. Multiple possible variants found:

• chr18-57508517-G-A
• chr18-57508517-G-T

Variant summary

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

The variant allele was found at a frequency of 0.593 in 152,078 control chromosomes in the GnomAD database, including 27,577 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 0.59 (27577 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.58
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.655 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

Frequencies

GnomAD3 genomes AF: 0.594 AC: 90198 AN: 151960 Hom.: 27578 Cov.: 32

Gnomad AFR AF: 0.599

Gnomad AMI AF: 0.636

Gnomad AMR AF: 0.457

Gnomad ASJ AF: 0.658

Gnomad EAS AF: 0.245

Gnomad SAS AF: 0.441

Gnomad FIN AF: 0.556

Gnomad MID AF: 0.620

Gnomad NFE AF: 0.660

Gnomad OTH AF: 0.583

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

GnomAD4 genome AF: 0.593 AC: 90213 AN: 152078 Hom.: 27577 Cov.: 32 AF XY: 0.578 AC XY: 42994 AN XY: 74328

African (AFR) AF: 0.599 AC: 24821 AN: 41466

American (AMR) AF: 0.457 AC: 6972 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.658 AC: 2285 AN: 3472

East Asian (EAS) AF: 0.244 AC: 1259 AN: 5158

South Asian (SAS) AF: 0.440 AC: 2124 AN: 4830

European-Finnish (FIN) AF: 0.556 AC: 5876 AN: 10564

Middle Eastern (MID) AF: 0.612 AC: 180 AN: 294

European-Non Finnish (NFE) AF: 0.660 AC: 44888 AN: 68006

Other (OTH) AF: 0.583 AC: 1228 AN: 2108

Alfa AF: 0.636 Hom.: 15815

Bravo AF: 0.586

Asia WGS AF: 0.391 AC: 1364 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.25
DANN	Benign	0.35
PhyloP100		-2.6

Splicing

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

Other links and lift over

dbSNP: rs10503018; hg19: chr18-55175749;