rs11955686

Variant names:

• chr5-69444826-A-C
• rs11955686

Your query was ambiguous. Multiple possible variants found:

• chr5-69444826-A-C
• chr5-69444826-A-G
• chr5-69444826-A-T

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 0.876 in 152,224 control chromosomes in the GnomAD database, including 59,756 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 0.88 (59756 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.323
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.962 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: 0.876 AC: 133236 AN: 152104 Hom.: 59738 Cov.: 33

Gnomad AFR AF: 0.660

Gnomad AMI AF: 0.958

Gnomad AMR AF: 0.916

Gnomad ASJ AF: 0.935

Gnomad EAS AF: 0.960

Gnomad SAS AF: 0.873

Gnomad FIN AF: 0.996

Gnomad MID AF: 0.921

Gnomad NFE AF: 0.968

Gnomad OTH AF: 0.903

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

GnomAD4 genome AF: 0.876 AC: 133300 AN: 152224 Hom.: 59756 Cov.: 33 AF XY: 0.877 AC XY: 65275 AN XY: 74450

African (AFR) AF: 0.659 AC: 27345 AN: 41478

American (AMR) AF: 0.916 AC: 14002 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.935 AC: 3246 AN: 3472

East Asian (EAS) AF: 0.960 AC: 4977 AN: 5184

South Asian (SAS) AF: 0.873 AC: 4216 AN: 4830

European-Finnish (FIN) AF: 0.996 AC: 10578 AN: 10624

Middle Eastern (MID) AF: 0.915 AC: 269 AN: 294

European-Non Finnish (NFE) AF: 0.968 AC: 65883 AN: 68036

Other (OTH) AF: 0.904 AC: 1910 AN: 2112

Alfa AF: 0.933 Hom.: 71668

Bravo AF: 0.861

Asia WGS AF: 0.906 AC: 3150 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	2.7
DANN	Benign	0.67
PhyloP100		-0.32

Splicing

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

Other links and lift over

dbSNP: rs11955686; hg19: chr5-68740653;