rs7243066

Positions:

• 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/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	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;