11-18050016-T-G

Variant names:

• chr11-18050016-T-G
• rs7110238

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 0.47 in 151,804 control chromosomes in the GnomAD database, including 18,207 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 0.47 (18207 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.39

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.663 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: 0.470 AC: 71286 AN: 151684 Hom.: 18159 Cov.: 30

Gnomad AFR AF: 0.669

Gnomad AMI AF: 0.424

Gnomad AMR AF: 0.368

Gnomad ASJ AF: 0.318

Gnomad EAS AF: 0.225

Gnomad SAS AF: 0.341

Gnomad FIN AF: 0.385

Gnomad MID AF: 0.468

Gnomad NFE AF: 0.422

Gnomad OTH AF: 0.459

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

GnomAD4 genome AF: 0.470 AC: 71390 AN: 151804 Hom.: 18207 Cov.: 30 AF XY: 0.461 AC XY: 34221 AN XY: 74156

Gnomad4 AFR AF: 0.670

Gnomad4 AMR AF: 0.368

Gnomad4 ASJ AF: 0.318

Gnomad4 EAS AF: 0.225

Gnomad4 SAS AF: 0.341

Gnomad4 FIN AF: 0.385

Gnomad4 NFE AF: 0.422

Gnomad4 OTH AF: 0.457

Alfa AF: 0.386 Hom.: 3296

Bravo AF: 0.479

Asia WGS AF: 0.321 AC: 1124 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	0.17
DANN	Benign	0.66

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7110238; hg19: chr11-18071563;