rs617819

Variant names:

• chr11-102843985-C-G
• rs617819

Your query was ambiguous. Multiple possible variants found:

• chr11-102843985-C-G
• chr11-102843985-C-A

Variant summary

Our verdict is Benign. The variant received -14 ACMG points: 0P and 14B. BP4_Strong BP6_Moderate BA1

The variant allele was found at a frequency of 0.576 in 152,022 control chromosomes in the GnomAD database, including 25,795 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).

• Frequency: Genomes: 𝑓 0.58 (25795 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: -3.77
• Publications: 13 publications found

ACMG classification

Our verdict: Benign. The variant received -14 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BP6: Variant 11-102843985-C-G is Benign according to our data. Variant chr11-102843985-C-G is described in ClinVar as Benign. ClinVar VariationId is 1222602.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.678 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.576 AC: 87516 AN: 151904 Hom.: 25757 Cov.: 33

Gnomad AFR AF: 0.655

Gnomad AMI AF: 0.581

Gnomad AMR AF: 0.639

Gnomad ASJ AF: 0.615

Gnomad EAS AF: 0.676

Gnomad SAS AF: 0.698

Gnomad FIN AF: 0.607

Gnomad MID AF: 0.566

Gnomad NFE AF: 0.492

Gnomad OTH AF: 0.560

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

GnomAD4 genome AF: 0.576 AC: 87612 AN: 152022 Hom.: 25795 Cov.: 33 AF XY: 0.585 AC XY: 43454 AN XY: 74278

African (AFR) AF: 0.655 AC: 27170 AN: 41472

American (AMR) AF: 0.639 AC: 9765 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.615 AC: 2133 AN: 3470

East Asian (EAS) AF: 0.675 AC: 3484 AN: 5158

South Asian (SAS) AF: 0.698 AC: 3365 AN: 4822

European-Finnish (FIN) AF: 0.607 AC: 6399 AN: 10542

Middle Eastern (MID) AF: 0.568 AC: 167 AN: 294

European-Non Finnish (NFE) AF: 0.492 AC: 33416 AN: 67960

Other (OTH) AF: 0.561 AC: 1184 AN: 2110

Alfa AF: 0.397 Hom.: 1149

Bravo AF: 0.581

Asia WGS AF: 0.665 AC: 2313 AN: 3478

ClinVar

ClinVar submissions

Significance: Benign

Revision: criteria provided, single submitter

Pathogenic	VUS	Benign	Condition
-	-	1	not provided (1)

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.096
DANN	Benign	0.62
PhyloP100		-3.8
PromoterAI		-0.010	Neutral

Splicing

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

Other links and lift over

dbSNP: rs617819; hg19: chr11-102714716;