rs11150614

Positions:

• chr16-31354695-A-G

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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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;