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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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

Gnomad4 AFR AF: 0.478

Gnomad4 AMR AF: 0.785

Gnomad4 ASJ AF: 0.780

Gnomad4 EAS AF: 0.458

Gnomad4 SAS AF: 0.685

Gnomad4 FIN AF: 0.925

Gnomad4 NFE AF: 0.834

Gnomad4 OTH AF: 0.722

Alfa AF: 0.806 Hom.: 98512

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7243066; hg19: chr18-11282319;