rs8043604

Variant names:

• chr16-77587594-G-A
• rs8043604

Your query was ambiguous. Multiple possible variants found:

• chr16-77587594-G-A
• chr16-77587594-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 0.0643 in 152,200 control chromosomes in the GnomAD database, including 786 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 0.064 (786 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.42

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.181 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: 0.0642 AC: 9767 AN: 152082 Hom.: 782 Cov.: 33

Gnomad AFR AF: 0.185

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0445

Gnomad ASJ AF: 0.0141

Gnomad EAS AF: 0.0838

Gnomad SAS AF: 0.0521

Gnomad FIN AF: 0.000377

Gnomad MID AF: 0.0949

Gnomad NFE AF: 0.00820

Gnomad OTH AF: 0.0531

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

GnomAD4 genome AF: 0.0643 AC: 9789 AN: 152200 Hom.: 786 Cov.: 33 AF XY: 0.0620 AC XY: 4616 AN XY: 74408

Gnomad4 AFR AF: 0.185

Gnomad4 AMR AF: 0.0447

Gnomad4 ASJ AF: 0.0141

Gnomad4 EAS AF: 0.0836

Gnomad4 SAS AF: 0.0524

Gnomad4 FIN AF: 0.000377

Gnomad4 NFE AF: 0.00820

Gnomad4 OTH AF: 0.0530

Alfa AF: 0.0125 Hom.: 16

Bravo AF: 0.0729

Asia WGS AF: 0.0660 AC: 229 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	5.4
DANN	Benign	0.63

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8043604; hg19: chr16-77621491;