rs11150614

Variant names:

• chr16-31354695-A-G
• rs11150614

Variant summary

Our verdict is Benign. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

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

Gnomad4 AFR AF: 0.681

Gnomad4 AMR AF: 0.589

Gnomad4 ASJ AF: 0.814

Gnomad4 EAS AF: 0.711

Gnomad4 SAS AF: 0.477

Gnomad4 FIN AF: 0.613

Gnomad4 NFE AF: 0.692

Gnomad4 OTH AF: 0.696

Alfa AF: 0.693 Hom.: 47369

Bravo AF: 0.673

Asia WGS AF: 0.574 AC: 1998 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.97
DANN	Benign	0.52

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11150614; hg19: chr16-31366016;