rs7184362

Positions:

• chr16-55845708-A-G
• chr16-55845708-A-T

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 0.0711 in 151,624 control chromosomes in the GnomAD database, including 813 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 0.071 (813 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.367

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.187 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: 0.0708 AC: 10733 AN: 151506 Hom.: 806 Cov.: 31

Gnomad AFR AF: 0.190

Gnomad AMI AF: 0.0571

Gnomad AMR AF: 0.0385

Gnomad ASJ AF: 0.0395

Gnomad EAS AF: 0.0703

Gnomad SAS AF: 0.0420

Gnomad FIN AF: 0.0158

Gnomad MID AF: 0.0601

Gnomad NFE AF: 0.0185

Gnomad OTH AF: 0.0557

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

GnomAD4 genome AF: 0.0711 AC: 10773 AN: 151624 Hom.: 813 Cov.: 31 AF XY: 0.0693 AC XY: 5134 AN XY: 74052

Gnomad4 AFR AF: 0.191

Gnomad4 AMR AF: 0.0384

Gnomad4 ASJ AF: 0.0395

Gnomad4 EAS AF: 0.0703

Gnomad4 SAS AF: 0.0421

Gnomad4 FIN AF: 0.0158

Gnomad4 NFE AF: 0.0184

Gnomad4 OTH AF: 0.0584

Alfa AF: 0.0454 Hom.: 48

Bravo AF: 0.0771

Asia WGS AF: 0.0790 AC: 272 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	5.0
DANN	Benign	0.35

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7184362; hg19: chr16-55879620;