5-16451322-C-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 0.799 in 152,096 control chromosomes in the GnomAD database, including 48,817 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 0.80 (48817 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.541

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 = 0.889 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: 0.799 AC: 121377 AN: 151978 Hom.: 48758 Cov.: 31

Gnomad AFR AF: 0.897

Gnomad AMI AF: 0.776

Gnomad AMR AF: 0.772

Gnomad ASJ AF: 0.767

Gnomad EAS AF: 0.693

Gnomad SAS AF: 0.671

Gnomad FIN AF: 0.790

Gnomad MID AF: 0.737

Gnomad NFE AF: 0.766

Gnomad OTH AF: 0.787

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

GnomAD4 genome AF: 0.799 AC: 121506 AN: 152096 Hom.: 48817 Cov.: 31 AF XY: 0.797 AC XY: 59263 AN XY: 74342

Gnomad4 AFR AF: 0.897

Gnomad4 AMR AF: 0.772

Gnomad4 ASJ AF: 0.767

Gnomad4 EAS AF: 0.694

Gnomad4 SAS AF: 0.671

Gnomad4 FIN AF: 0.790

Gnomad4 NFE AF: 0.766

Gnomad4 OTH AF: 0.789

Alfa AF: 0.743 Hom.: 2584

Bravo AF: 0.803

Asia WGS AF: 0.737 AC: 2562 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	0.61
Dann	Benign	0.39

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs26017; hg19: chr5-16451431;