rs7482316

Variant names:

• chr11-61872726-G-A
• rs7482316

Your query was ambiguous. Multiple possible variants found:

• chr11-61872726-G-A
• chr11-61872726-G-C

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 0.9 in 152,262 control chromosomes in the GnomAD database, including 61,731 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 0.90 (61731 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.695
• Publications: 15 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.968 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: 0.900 AC: 136897 AN: 152144 Hom.: 61682 Cov.: 33

Gnomad AFR AF: 0.919

Gnomad AMI AF: 0.831

Gnomad AMR AF: 0.882

Gnomad ASJ AF: 0.877

Gnomad EAS AF: 0.991

Gnomad SAS AF: 0.951

Gnomad FIN AF: 0.866

Gnomad MID AF: 0.924

Gnomad NFE AF: 0.889

Gnomad OTH AF: 0.902

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

GnomAD4 genome AF: 0.900 AC: 137005 AN: 152262 Hom.: 61731 Cov.: 33 AF XY: 0.900 AC XY: 67033 AN XY: 74450

African (AFR) AF: 0.919 AC: 38166 AN: 41550

American (AMR) AF: 0.883 AC: 13506 AN: 15300

Ashkenazi Jewish (ASJ) AF: 0.877 AC: 3041 AN: 3468

East Asian (EAS) AF: 0.991 AC: 5124 AN: 5170

South Asian (SAS) AF: 0.951 AC: 4593 AN: 4832

European-Finnish (FIN) AF: 0.866 AC: 9190 AN: 10618

Middle Eastern (MID) AF: 0.925 AC: 272 AN: 294

European-Non Finnish (NFE) AF: 0.889 AC: 60450 AN: 68008

Other (OTH) AF: 0.903 AC: 1905 AN: 2110

Alfa AF: 0.898 Hom.: 32779

Bravo AF: 0.903

Asia WGS AF: 0.957 AC: 3329 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	7.0
DANN	Benign	0.56
PhyloP100		0.69

Splicing

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

Other links and lift over

dbSNP: rs7482316; hg19: chr11-61640198;