rs11150614

Variant names:

• chr16-31354695-A-G
• rs11150614

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 0.67 in 152,078 control chromosomes in the GnomAD database, including 34,387 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 0.67 (34387 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.509
• Publications: 25 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 = 0.692 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.670 AC: 101783 AN: 151960 Hom.: 34380 Cov.: 32

Gnomad AFR AF: 0.682

Gnomad AMI AF: 0.626

Gnomad AMR AF: 0.590

Gnomad ASJ AF: 0.814

Gnomad EAS AF: 0.710

Gnomad SAS AF: 0.476

Gnomad FIN AF: 0.613

Gnomad MID AF: 0.851

Gnomad NFE AF: 0.692

Gnomad OTH AF: 0.697

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

GnomAD4 genome AF: 0.670 AC: 101834 AN: 152078 Hom.: 34387 Cov.: 32 AF XY: 0.663 AC XY: 49319 AN XY: 74332

African (AFR) AF: 0.681 AC: 28247 AN: 41468

American (AMR) AF: 0.589 AC: 9003 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.814 AC: 2825 AN: 3472

East Asian (EAS) AF: 0.711 AC: 3675 AN: 5168

South Asian (SAS) AF: 0.477 AC: 2297 AN: 4816

European-Finnish (FIN) AF: 0.613 AC: 6478 AN: 10568

Middle Eastern (MID) AF: 0.850 AC: 250 AN: 294

European-Non Finnish (NFE) AF: 0.692 AC: 47018 AN: 67984

Other (OTH) AF: 0.696 AC: 1470 AN: 2112

Alfa AF: 0.690 Hom.: 60136

Bravo AF: 0.673

Asia WGS AF: 0.574 AC: 1998 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	0.97
DANN	Benign	0.52
PhyloP100		-0.51
PromoterAI		0.023	Neutral

Splicing

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

Other links and lift over

dbSNP: rs11150614; hg19: chr16-31366016;