11-1222850-C-G

Position:

• chr11-1222850-C-G

Variant summary

Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_Strong BP6_Moderate BA1

The variant allele was found at a frequency of 0.134 in 152,214 control chromosomes in the GnomAD database, including 1,751 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).

• Frequency: Genomes: 𝑓 0.13 (1751 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: 0.755

ACMG classification

Verdict is Benign. Variant got -14 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BP6: Variant 11-1222850-C-G is Benign according to our data. Variant chr11-1222850-C-G is described in ClinVar as [Benign]. Clinvar id is 1226529.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.356 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.134 AC: 20321 AN: 152096 Hom.: 1751 Cov.: 33

Gnomad AFR AF: 0.208

Gnomad AMI AF: 0.157

Gnomad AMR AF: 0.107

Gnomad ASJ AF: 0.0544

Gnomad EAS AF: 0.369

Gnomad SAS AF: 0.142

Gnomad FIN AF: 0.152

Gnomad MID AF: 0.0764

Gnomad NFE AF: 0.0774

Gnomad OTH AF: 0.124

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

GnomAD4 genome AF: 0.134 AC: 20340 AN: 152214 Hom.: 1751 Cov.: 33 AF XY: 0.138 AC XY: 10249 AN XY: 74400

Gnomad4 AFR AF: 0.207

Gnomad4 AMR AF: 0.107

Gnomad4 ASJ AF: 0.0544

Gnomad4 EAS AF: 0.370

Gnomad4 SAS AF: 0.142

Gnomad4 FIN AF: 0.152

Gnomad4 NFE AF: 0.0774

Gnomad4 OTH AF: 0.128

Alfa AF: 0.102 Hom.: 129

Bravo AF: 0.134

Asia WGS AF: 0.277 AC: 965 AN: 3478

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

not provided Benign:1

Benign, criteria provided, single submitter

clinical testing

GeneDx

Nov 12, 2018

- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	1.8
DANN	Benign	0.69

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7118568; hg19: chr11-1244080;