rs7243066

Variant names:

• chr18-11282320-G-A
• rs7243066

Your query was ambiguous. Multiple possible variants found:

• chr18-11282320-G-A
• chr18-11282320-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 0.718 in 152,198 control chromosomes in the GnomAD database, including 41,452 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 0.72 (41452 hom., cov: 34)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0150
• Publications: 9 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.829 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: 0.718 AC: 109269 AN: 152080 Hom.: 41453 Cov.: 34

Gnomad AFR AF: 0.479

Gnomad AMI AF: 0.849

Gnomad AMR AF: 0.785

Gnomad ASJ AF: 0.780

Gnomad EAS AF: 0.457

Gnomad SAS AF: 0.686

Gnomad FIN AF: 0.925

Gnomad MID AF: 0.639

Gnomad NFE AF: 0.834

Gnomad OTH AF: 0.728

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

GnomAD4 genome AF: 0.718 AC: 109290 AN: 152198 Hom.: 41452 Cov.: 34 AF XY: 0.722 AC XY: 53706 AN XY: 74410

African (AFR) AF: 0.478 AC: 19834 AN: 41480

American (AMR) AF: 0.785 AC: 12009 AN: 15300

Ashkenazi Jewish (ASJ) AF: 0.780 AC: 2705 AN: 3468

East Asian (EAS) AF: 0.458 AC: 2365 AN: 5168

South Asian (SAS) AF: 0.685 AC: 3310 AN: 4830

European-Finnish (FIN) AF: 0.925 AC: 9808 AN: 10604

Middle Eastern (MID) AF: 0.646 AC: 190 AN: 294

European-Non Finnish (NFE) AF: 0.834 AC: 56772 AN: 68032

Other (OTH) AF: 0.722 AC: 1523 AN: 2110

Alfa AF: 0.786 Hom.: 150106

Bravo AF: 0.692

Asia WGS AF: 0.563 AC: 1960 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	1.6
DANN	Benign	0.82
PhyloP100		0.015

Splicing

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

Other links and lift over

dbSNP: rs7243066; hg19: chr18-11282319;