chr16-11547324-A-G

Variant names:

• chr16-11547324-A-G
• rs7203193

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 0.551 in 152,168 control chromosomes in the GnomAD database, including 24,466 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 0.55 (24466 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.535

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.762 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: 0.550 AC: 83672 AN: 152048 Hom.: 24427 Cov.: 33

Gnomad AFR AF: 0.769

Gnomad AMI AF: 0.393

Gnomad AMR AF: 0.435

Gnomad ASJ AF: 0.457

Gnomad EAS AF: 0.531

Gnomad SAS AF: 0.435

Gnomad FIN AF: 0.452

Gnomad MID AF: 0.453

Gnomad NFE AF: 0.477

Gnomad OTH AF: 0.491

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

GnomAD4 genome AF: 0.551 AC: 83778 AN: 152168 Hom.: 24466 Cov.: 33 AF XY: 0.547 AC XY: 40664 AN XY: 74384

Gnomad4 AFR AF: 0.769

Gnomad4 AMR AF: 0.435

Gnomad4 ASJ AF: 0.457

Gnomad4 EAS AF: 0.531

Gnomad4 SAS AF: 0.435

Gnomad4 FIN AF: 0.452

Gnomad4 NFE AF: 0.477

Gnomad4 OTH AF: 0.498

Alfa AF: 0.489 Hom.: 22096

Bravo AF: 0.562

Asia WGS AF: 0.540 AC: 1879 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.5
DANN	Benign	0.30

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7203193; hg19: chr16-11641180;