rs193756

Variant names:

• chr16-11232928-G-A
• rs193756

Your query was ambiguous. Multiple possible variants found:

• chr16-11232928-G-A
• chr16-11232928-G-C

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 0.395 in 152,188 control chromosomes in the GnomAD database, including 12,390 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 0.39 (12390 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.71

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.482 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: 0.395 AC: 60052 AN: 152070 Hom.: 12385 Cov.: 33

Gnomad AFR AF: 0.488

Gnomad AMI AF: 0.328

Gnomad AMR AF: 0.344

Gnomad ASJ AF: 0.251

Gnomad EAS AF: 0.354

Gnomad SAS AF: 0.212

Gnomad FIN AF: 0.420

Gnomad MID AF: 0.367

Gnomad NFE AF: 0.371

Gnomad OTH AF: 0.379

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

GnomAD4 genome AF: 0.395 AC: 60086 AN: 152188 Hom.: 12390 Cov.: 33 AF XY: 0.393 AC XY: 29242 AN XY: 74412

Gnomad4 AFR AF: 0.488

Gnomad4 AMR AF: 0.343

Gnomad4 ASJ AF: 0.251

Gnomad4 EAS AF: 0.354

Gnomad4 SAS AF: 0.212

Gnomad4 FIN AF: 0.420

Gnomad4 NFE AF: 0.371

Gnomad4 OTH AF: 0.376

Alfa AF: 0.360 Hom.: 20179

Bravo AF: 0.393

Asia WGS AF: 0.281 AC: 978 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.13
DANN	Benign	0.31

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs193756; hg19: chr16-11326785;