chr11-67579816-G-A

Variant names:

• chr11-67579816-G-A
• rs614080

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 0.4 in 152,054 control chromosomes in the GnomAD database, including 14,432 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 0.40 (14432 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.141
• Publications: 31 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.667 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: 0.400 AC: 60818 AN: 151936 Hom.: 14434 Cov.: 31

Gnomad AFR AF: 0.140

Gnomad AMI AF: 0.553

Gnomad AMR AF: 0.400

Gnomad ASJ AF: 0.641

Gnomad EAS AF: 0.687

Gnomad SAS AF: 0.623

Gnomad FIN AF: 0.517

Gnomad MID AF: 0.547

Gnomad NFE AF: 0.487

Gnomad OTH AF: 0.442

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

GnomAD4 genome AF: 0.400 AC: 60822 AN: 152054 Hom.: 14432 Cov.: 31 AF XY: 0.411 AC XY: 30535 AN XY: 74318

African (AFR) AF: 0.140 AC: 5788 AN: 41490

American (AMR) AF: 0.400 AC: 6114 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.641 AC: 2226 AN: 3470

East Asian (EAS) AF: 0.686 AC: 3540 AN: 5160

South Asian (SAS) AF: 0.623 AC: 2996 AN: 4806

European-Finnish (FIN) AF: 0.517 AC: 5461 AN: 10568

Middle Eastern (MID) AF: 0.541 AC: 159 AN: 294

European-Non Finnish (NFE) AF: 0.487 AC: 33095 AN: 67970

Other (OTH) AF: 0.445 AC: 940 AN: 2110

Alfa AF: 0.465 Hom.: 54405

Bravo AF: 0.378

Asia WGS AF: 0.602 AC: 2092 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	4.5
DANN	Benign	0.62
PhyloP100		0.14

Splicing

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

Other links and lift over

dbSNP: rs614080; hg19: chr11-67347287;