rs7950726

Variant names:

• chr11-5204217-C-A
• rs7950726

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 0.163 in 151,906 control chromosomes in the GnomAD database, including 2,419 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 0.16 (2419 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0640
• Publications: 12 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 (AFR) allele frequency at 95% confidence interval = 0.267 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.163 AC: 24699 AN: 151786 Hom.: 2409 Cov.: 32

Gnomad AFR AF: 0.271

Gnomad AMI AF: 0.0439

Gnomad AMR AF: 0.114

Gnomad ASJ AF: 0.0879

Gnomad EAS AF: 0.0244

Gnomad SAS AF: 0.186

Gnomad FIN AF: 0.153

Gnomad MID AF: 0.134

Gnomad NFE AF: 0.124

Gnomad OTH AF: 0.152

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

GnomAD4 genome AF: 0.163 AC: 24734 AN: 151906 Hom.: 2419 Cov.: 32 AF XY: 0.162 AC XY: 12050 AN XY: 74248

African (AFR) AF: 0.271 AC: 11218 AN: 41396

American (AMR) AF: 0.114 AC: 1733 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.0879 AC: 305 AN: 3470

East Asian (EAS) AF: 0.0246 AC: 127 AN: 5162

South Asian (SAS) AF: 0.185 AC: 892 AN: 4818

European-Finnish (FIN) AF: 0.153 AC: 1606 AN: 10512

Middle Eastern (MID) AF: 0.139 AC: 41 AN: 294

European-Non Finnish (NFE) AF: 0.124 AC: 8451 AN: 67968

Other (OTH) AF: 0.152 AC: 321 AN: 2106

Alfa AF: 0.138 Hom.: 3365

Bravo AF: 0.156

Asia WGS AF: 0.120 AC: 417 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	1.0
DANN	Benign	0.22
PhyloP100		0.064

Splicing

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

Other links and lift over

dbSNP: rs7950726; hg19: chr11-5225447;