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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.935 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

Gnomad4 AFR AF: 0.827

Gnomad4 AMR AF: 0.977

Gnomad4 ASJ AF: 0.981

Gnomad4 EAS AF: 0.936

Gnomad4 SAS AF: 0.880

Gnomad4 FIN AF: 0.986

Gnomad4 NFE AF: 0.983

Gnomad4 OTH AF: 0.946

Alfa AF: 0.940 Hom.: 9188

Bravo AF: 0.932

Asia WGS AF: 0.913 AC: 3175 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.35
DANN	Benign	0.67

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

Publications

LitVar

Other links and lift over

dbSNP: rs4910722; hg19: chr11-5196717;