rs769214

Variant names:

• chr11-34438170-G-A
• rs769214

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 0.603 in 151,918 control chromosomes in the GnomAD database, including 28,234 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 0.60 (28234 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.264
• Publications: 68 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.659 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: 0.603 AC: 91573 AN: 151800 Hom.: 28216 Cov.: 32

Gnomad AFR AF: 0.570

Gnomad AMI AF: 0.542

Gnomad AMR AF: 0.505

Gnomad ASJ AF: 0.678

Gnomad EAS AF: 0.288

Gnomad SAS AF: 0.630

Gnomad FIN AF: 0.607

Gnomad MID AF: 0.604

Gnomad NFE AF: 0.665

Gnomad OTH AF: 0.586

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

GnomAD4 genome AF: 0.603 AC: 91628 AN: 151918 Hom.: 28234 Cov.: 32 AF XY: 0.599 AC XY: 44435 AN XY: 74236

African (AFR) AF: 0.570 AC: 23606 AN: 41396

American (AMR) AF: 0.504 AC: 7685 AN: 15258

Ashkenazi Jewish (ASJ) AF: 0.678 AC: 2351 AN: 3470

East Asian (EAS) AF: 0.289 AC: 1493 AN: 5164

South Asian (SAS) AF: 0.630 AC: 3033 AN: 4816

European-Finnish (FIN) AF: 0.607 AC: 6398 AN: 10538

Middle Eastern (MID) AF: 0.612 AC: 180 AN: 294

European-Non Finnish (NFE) AF: 0.665 AC: 45165 AN: 67964

Other (OTH) AF: 0.581 AC: 1225 AN: 2110

Alfa AF: 0.642 Hom.: 38364

Bravo AF: 0.589

Asia WGS AF: 0.449 AC: 1560 AN: 3468

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	1.6
DANN	Benign	0.24
PhyloP100		-0.26

Splicing

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

Other links and lift over

dbSNP: rs769214; hg19: chr11-34459717;