18-27916347-A-G

Variant names:

• chr18-27916347-A-G
• rs4542737

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 0.947 in 152,198 control chromosomes in the GnomAD database, including 68,460 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 0.95 (68460 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.261
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.977 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: 0.947 AC: 144090 AN: 152080 Hom.: 68420 Cov.: 32

Gnomad AFR AF: 0.873

Gnomad AMI AF: 0.886

Gnomad AMR AF: 0.969

Gnomad ASJ AF: 0.988

Gnomad EAS AF: 1.00

Gnomad SAS AF: 0.995

Gnomad FIN AF: 0.986

Gnomad MID AF: 0.987

Gnomad NFE AF: 0.973

Gnomad OTH AF: 0.965

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

GnomAD4 genome AF: 0.947 AC: 144189 AN: 152198 Hom.: 68460 Cov.: 32 AF XY: 0.950 AC XY: 70682 AN XY: 74396

African (AFR) AF: 0.873 AC: 36270 AN: 41534

American (AMR) AF: 0.969 AC: 14807 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.988 AC: 3431 AN: 3472

East Asian (EAS) AF: 1.00 AC: 5165 AN: 5166

South Asian (SAS) AF: 0.995 AC: 4800 AN: 4826

European-Finnish (FIN) AF: 0.986 AC: 10459 AN: 10612

Middle Eastern (MID) AF: 0.986 AC: 290 AN: 294

European-Non Finnish (NFE) AF: 0.973 AC: 66119 AN: 67984

Other (OTH) AF: 0.965 AC: 2040 AN: 2114

Alfa AF: 0.958 Hom.: 9384

Bravo AF: 0.942

Asia WGS AF: 0.990 AC: 3441 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	1.6
DANN	Benign	0.66
PhyloP100		-0.26

Splicing

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

Other links and lift over

dbSNP: rs4542737; hg19: chr18-25496311;