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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.876 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

Gnomad4 AFR AF: 0.659

Gnomad4 AMR AF: 0.916

Gnomad4 ASJ AF: 0.935

Gnomad4 EAS AF: 0.960

Gnomad4 SAS AF: 0.873

Gnomad4 FIN AF: 0.996

Gnomad4 NFE AF: 0.968

Gnomad4 OTH AF: 0.904

Alfa AF: 0.947 Hom.: 49554

Bravo AF: 0.861

Asia WGS AF: 0.906 AC: 3150 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11955686; hg19: chr5-68740653;