rs11218714

Variant names:

• chr11-122624923-A-G
• rs11218714

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 0.279 in 152,060 control chromosomes in the GnomAD database, including 6,316 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 0.28 (6316 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.502
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.366 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: 0.279 AC: 42378 AN: 151942 Hom.: 6310 Cov.: 32

Gnomad AFR AF: 0.175

Gnomad AMI AF: 0.346

Gnomad AMR AF: 0.336

Gnomad ASJ AF: 0.248

Gnomad EAS AF: 0.301

Gnomad SAS AF: 0.382

Gnomad FIN AF: 0.265

Gnomad MID AF: 0.294

Gnomad NFE AF: 0.324

Gnomad OTH AF: 0.273

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

GnomAD4 genome AF: 0.279 AC: 42417 AN: 152060 Hom.: 6316 Cov.: 32 AF XY: 0.280 AC XY: 20793 AN XY: 74328

African (AFR) AF: 0.175 AC: 7255 AN: 41486

American (AMR) AF: 0.336 AC: 5129 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.248 AC: 861 AN: 3472

East Asian (EAS) AF: 0.301 AC: 1552 AN: 5162

South Asian (SAS) AF: 0.381 AC: 1833 AN: 4814

European-Finnish (FIN) AF: 0.265 AC: 2803 AN: 10562

Middle Eastern (MID) AF: 0.282 AC: 83 AN: 294

European-Non Finnish (NFE) AF: 0.324 AC: 21996 AN: 67978

Other (OTH) AF: 0.280 AC: 591 AN: 2110

Alfa AF: 0.296 Hom.: 2471

Bravo AF: 0.276

Asia WGS AF: 0.336 AC: 1170 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	1.1
DANN	Benign	0.48
PhyloP100		-0.50

Splicing

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

Other links and lift over

dbSNP: rs11218714; hg19: chr11-122495631;