rs8043960

chr16-51944704-C-Achr16-51944704-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 0.673 in 152,060 control chromosomes in the GnomAD database, including 34,591 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 0.67 (34591 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.581

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.754 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: 0.673 AC: 102291 AN: 151942 Hom.: 34550 Cov.: 32

Gnomad AFR AF: 0.646

Gnomad AMI AF: 0.758

Gnomad AMR AF: 0.713

Gnomad ASJ AF: 0.740

Gnomad EAS AF: 0.774

Gnomad SAS AF: 0.666

Gnomad FIN AF: 0.628

Gnomad MID AF: 0.699

Gnomad NFE AF: 0.675

Gnomad OTH AF: 0.694

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

GnomAD4 genome AF: 0.673 AC: 102399 AN: 152060 Hom.: 34591 Cov.: 32 AF XY: 0.672 AC XY: 49987 AN XY: 74334

Gnomad4 AFR AF: 0.646

Gnomad4 AMR AF: 0.714

Gnomad4 ASJ AF: 0.740

Gnomad4 EAS AF: 0.774

Gnomad4 SAS AF: 0.666

Gnomad4 FIN AF: 0.628

Gnomad4 NFE AF: 0.675

Gnomad4 OTH AF: 0.697

Alfa AF: 0.683 Hom.: 46199

Bravo AF: 0.683

Asia WGS AF: 0.746 AC: 2596 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
Cadd	Benign	1.8
Dann	Benign	0.54

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8043960; hg19: chr16-51978616;