rs932792

Variant names:

• chr20-56276690-C-A
• rs932792

Your query was ambiguous. Multiple possible variants found:

• chr20-56276690-C-A
• chr20-56276690-C-G
• chr20-56276690-C-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 0.467 in 152,126 control chromosomes in the GnomAD database, including 20,359 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 0.47 (20359 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.176

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.637 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: 0.467 AC: 71007 AN: 152008 Hom.: 20370 Cov.: 32

Gnomad AFR AF: 0.135

Gnomad AMI AF: 0.789

Gnomad AMR AF: 0.492

Gnomad ASJ AF: 0.573

Gnomad EAS AF: 0.269

Gnomad SAS AF: 0.549

Gnomad FIN AF: 0.591

Gnomad MID AF: 0.528

Gnomad NFE AF: 0.642

Gnomad OTH AF: 0.514

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

GnomAD4 genome AF: 0.467 AC: 71010 AN: 152126 Hom.: 20359 Cov.: 32 AF XY: 0.465 AC XY: 34578 AN XY: 74360

Gnomad4 AFR AF: 0.134

Gnomad4 AMR AF: 0.492

Gnomad4 ASJ AF: 0.573

Gnomad4 EAS AF: 0.269

Gnomad4 SAS AF: 0.550

Gnomad4 FIN AF: 0.591

Gnomad4 NFE AF: 0.642

Gnomad4 OTH AF: 0.512

Alfa AF: 0.443 Hom.: 2079

Bravo AF: 0.442

Asia WGS AF: 0.404 AC: 1404 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	4.1
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: rs932792; hg19: chr20-54851746;