rs1917855

Variant names:

• chr11-80692014-T-C
• rs1917855

Your query was ambiguous. Multiple possible variants found:

• chr11-80692014-T-C
• chr11-80692014-T-G

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 0.533 in 151,894 control chromosomes in the GnomAD database, including 25,060 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 0.53 (25060 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.500
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.708 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.533 AC: 80939 AN: 151776 Hom.: 25044 Cov.: 32

Gnomad AFR AF: 0.207

Gnomad AMI AF: 0.703

Gnomad AMR AF: 0.674

Gnomad ASJ AF: 0.605

Gnomad EAS AF: 0.332

Gnomad SAS AF: 0.727

Gnomad FIN AF: 0.655

Gnomad MID AF: 0.592

Gnomad NFE AF: 0.677

Gnomad OTH AF: 0.531

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

GnomAD4 genome AF: 0.533 AC: 80972 AN: 151894 Hom.: 25060 Cov.: 32 AF XY: 0.538 AC XY: 39931 AN XY: 74274

African (AFR) AF: 0.207 AC: 8568 AN: 41462

American (AMR) AF: 0.674 AC: 10264 AN: 15228

Ashkenazi Jewish (ASJ) AF: 0.605 AC: 2094 AN: 3462

East Asian (EAS) AF: 0.333 AC: 1713 AN: 5142

South Asian (SAS) AF: 0.729 AC: 3509 AN: 4816

European-Finnish (FIN) AF: 0.655 AC: 6941 AN: 10590

Middle Eastern (MID) AF: 0.579 AC: 169 AN: 292

European-Non Finnish (NFE) AF: 0.677 AC: 45944 AN: 67882

Other (OTH) AF: 0.536 AC: 1130 AN: 2110

Alfa AF: 0.589 Hom.: 5002

Bravo AF: 0.516

Asia WGS AF: 0.538 AC: 1870 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.7
DANN	Benign	0.72
PhyloP100		-0.50

Splicing

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

Other links and lift over

dbSNP: rs1917855; hg19: chr11-80403058;