rs4910722

Variant names:

• chr11-5175487-G-A
• rs4910722

Your query was ambiguous. Multiple possible variants found:

• chr11-5175487-G-A
• chr11-5175487-G-C
• chr11-5175487-G-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 0.935 in 152,180 control chromosomes in the GnomAD database, including 66,896 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 0.93 (66896 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.09
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.977 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: 0.935 AC: 142182 AN: 152062 Hom.: 66864 Cov.: 30

Gnomad AFR AF: 0.828

Gnomad AMI AF: 0.980

Gnomad AMR AF: 0.977

Gnomad ASJ AF: 0.981

Gnomad EAS AF: 0.935

Gnomad SAS AF: 0.881

Gnomad FIN AF: 0.986

Gnomad MID AF: 0.965

Gnomad NFE AF: 0.983

Gnomad OTH AF: 0.945

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

GnomAD4 genome AF: 0.935 AC: 142268 AN: 152180 Hom.: 66896 Cov.: 30 AF XY: 0.934 AC XY: 69524 AN XY: 74430

African (AFR) AF: 0.827 AC: 34310 AN: 41468

American (AMR) AF: 0.977 AC: 14938 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.981 AC: 3406 AN: 3472

East Asian (EAS) AF: 0.936 AC: 4839 AN: 5170

South Asian (SAS) AF: 0.880 AC: 4243 AN: 4820

European-Finnish (FIN) AF: 0.986 AC: 10480 AN: 10624

Middle Eastern (MID) AF: 0.963 AC: 283 AN: 294

European-Non Finnish (NFE) AF: 0.983 AC: 66878 AN: 68022

Other (OTH) AF: 0.946 AC: 1997 AN: 2112

Alfa AF: 0.950 Hom.: 19273

Bravo AF: 0.932

Asia WGS AF: 0.913 AC: 3175 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.35
DANN	Benign	0.67
PhyloP100		-1.1
Mutation Taster		=100/0	polymorphism (auto)

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Other links and lift over

dbSNP: rs4910722; hg19: chr11-5196717;