rs7126715

Variant names:

• chr11-63414285-G-A
• rs7126715

Your query was ambiguous. Multiple possible variants found:

• chr11-63414285-G-A
• chr11-63414285-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 0.369 in 151,786 control chromosomes in the GnomAD database, including 11,868 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 0.37 (11868 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.343
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.8 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: 0.368 AC: 55881 AN: 151668 Hom.: 11844 Cov.: 32

Gnomad AFR AF: 0.499

Gnomad AMI AF: 0.268

Gnomad AMR AF: 0.443

Gnomad ASJ AF: 0.175

Gnomad EAS AF: 0.821

Gnomad SAS AF: 0.483

Gnomad FIN AF: 0.311

Gnomad MID AF: 0.220

Gnomad NFE AF: 0.250

Gnomad OTH AF: 0.378

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

GnomAD4 genome AF: 0.369 AC: 55958 AN: 151786 Hom.: 11868 Cov.: 32 AF XY: 0.373 AC XY: 27633 AN XY: 74182

African (AFR) AF: 0.499 AC: 20668 AN: 41422

American (AMR) AF: 0.443 AC: 6767 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.175 AC: 608 AN: 3468

East Asian (EAS) AF: 0.821 AC: 4248 AN: 5176

South Asian (SAS) AF: 0.482 AC: 2322 AN: 4814

European-Finnish (FIN) AF: 0.311 AC: 3270 AN: 10520

Middle Eastern (MID) AF: 0.223 AC: 65 AN: 292

European-Non Finnish (NFE) AF: 0.250 AC: 16961 AN: 67820

Other (OTH) AF: 0.383 AC: 805 AN: 2104

Alfa AF: 0.285 Hom.: 9751

Bravo AF: 0.389

Asia WGS AF: 0.638 AC: 2211 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.72
DANN	Benign	0.52
PhyloP100		-0.34

Splicing

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

Other links and lift over

dbSNP: rs7126715; hg19: chr11-63181757; COSMIC: COSV54167526;