rs585247

Variant names:

• chr18-11974796-A-G
• rs585247

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 0.284 in 152,106 control chromosomes in the GnomAD database, including 7,901 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 0.28 (7901 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.653
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.504 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: 0.284 AC: 43214 AN: 151986 Hom.: 7888 Cov.: 32

Gnomad AFR AF: 0.510

Gnomad AMI AF: 0.308

Gnomad AMR AF: 0.169

Gnomad ASJ AF: 0.175

Gnomad EAS AF: 0.280

Gnomad SAS AF: 0.395

Gnomad FIN AF: 0.150

Gnomad MID AF: 0.241

Gnomad NFE AF: 0.193

Gnomad OTH AF: 0.255

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

GnomAD4 genome AF: 0.284 AC: 43268 AN: 152106 Hom.: 7901 Cov.: 32 AF XY: 0.284 AC XY: 21098 AN XY: 74366

African (AFR) AF: 0.510 AC: 21163 AN: 41482

American (AMR) AF: 0.169 AC: 2577 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.175 AC: 608 AN: 3468

East Asian (EAS) AF: 0.279 AC: 1447 AN: 5180

South Asian (SAS) AF: 0.395 AC: 1903 AN: 4822

European-Finnish (FIN) AF: 0.150 AC: 1582 AN: 10576

Middle Eastern (MID) AF: 0.231 AC: 68 AN: 294

European-Non Finnish (NFE) AF: 0.193 AC: 13091 AN: 67970

Other (OTH) AF: 0.259 AC: 549 AN: 2116

Alfa AF: 0.236 Hom.: 1819

Bravo AF: 0.290

Asia WGS AF: 0.377 AC: 1307 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	1.3
DANN	Benign	0.34
PhyloP100		-0.65

Splicing

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

Other links and lift over

dbSNP: rs585247; hg19: chr18-11974795;