rs8043960

Variant names:

• chr16-51944704-C-A
• rs8043960

Your query was ambiguous. Multiple possible variants found:

• chr16-51944704-C-A
• chr16-51944704-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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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;