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. The variant received -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
• Publications: 8 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

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: 0.395 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

African (AFR) AF: 0.488 AC: 20259 AN: 41516

American (AMR) AF: 0.343 AC: 5253 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.251 AC: 870 AN: 3470

East Asian (EAS) AF: 0.354 AC: 1831 AN: 5170

South Asian (SAS) AF: 0.212 AC: 1022 AN: 4832

European-Finnish (FIN) AF: 0.420 AC: 4452 AN: 10592

Middle Eastern (MID) AF: 0.378 AC: 111 AN: 294

European-Non Finnish (NFE) AF: 0.371 AC: 25194 AN: 67992

Other (OTH) AF: 0.376 AC: 795 AN: 2114

Alfa AF: 0.370 Hom.: 46351

Bravo AF: 0.393

Asia WGS AF: 0.281 AC: 978 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.13
DANN	Benign	0.31
PhyloP100		-1.7

Splicing

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

Other links and lift over

dbSNP: rs193756; hg19: chr16-11326785;