rs285676

Variant names:

• chr19-33792037-A-C
• rs285676

Your query was ambiguous. Multiple possible variants found:

• chr19-33792037-A-C
• chr19-33792037-A-G
• chr19-33792037-A-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.157 in 152,168 control chromosomes in the GnomAD database, including 2,089 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 0.16 (2089 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.927
• Publications: 5 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.71).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.227 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: 0.157 AC: 23825 AN: 152050 Hom.: 2094 Cov.: 32

Gnomad AFR AF: 0.225

Gnomad AMI AF: 0.0318

Gnomad AMR AF: 0.0988

Gnomad ASJ AF: 0.178

Gnomad EAS AF: 0.0378

Gnomad SAS AF: 0.239

Gnomad FIN AF: 0.153

Gnomad MID AF: 0.146

Gnomad NFE AF: 0.133

Gnomad OTH AF: 0.141

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

GnomAD4 genome AF: 0.157 AC: 23838 AN: 152168 Hom.: 2089 Cov.: 32 AF XY: 0.159 AC XY: 11796 AN XY: 74412

African (AFR) AF: 0.224 AC: 9310 AN: 41492

American (AMR) AF: 0.0988 AC: 1511 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.178 AC: 619 AN: 3468

East Asian (EAS) AF: 0.0383 AC: 198 AN: 5176

South Asian (SAS) AF: 0.238 AC: 1147 AN: 4818

European-Finnish (FIN) AF: 0.153 AC: 1623 AN: 10600

Middle Eastern (MID) AF: 0.146 AC: 43 AN: 294

European-Non Finnish (NFE) AF: 0.133 AC: 9060 AN: 67996

Other (OTH) AF: 0.141 AC: 298 AN: 2116

Alfa AF: 0.138 Hom.: 2355

Bravo AF: 0.151

Asia WGS AF: 0.130 AC: 453 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.71
CADD	Benign	1.2
DANN	Benign	0.65
PhyloP100		-0.93

Splicing

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

Other links and lift over

dbSNP: rs285676; hg19: chr19-34282942;