rs7204293

Variant names:

• chr16-49994194-G-A
• rs7204293

Your query was ambiguous. Multiple possible variants found:

• chr16-49994194-G-A
• chr16-49994194-G-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 0.18 in 152,094 control chromosomes in the GnomAD database, including 4,339 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 0.18 (4339 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.63
• Publications: 8 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.424 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: 0.179 AC: 27279 AN: 151976 Hom.: 4326 Cov.: 32

Gnomad AFR AF: 0.429

Gnomad AMI AF: 0.0417

Gnomad AMR AF: 0.122

Gnomad ASJ AF: 0.0499

Gnomad EAS AF: 0.258

Gnomad SAS AF: 0.105

Gnomad FIN AF: 0.0262

Gnomad MID AF: 0.101

Gnomad NFE AF: 0.0741

Gnomad OTH AF: 0.146

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

GnomAD4 genome AF: 0.180 AC: 27340 AN: 152094 Hom.: 4339 Cov.: 32 AF XY: 0.176 AC XY: 13086 AN XY: 74346

African (AFR) AF: 0.429 AC: 17772 AN: 41434

American (AMR) AF: 0.122 AC: 1859 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.0499 AC: 173 AN: 3468

East Asian (EAS) AF: 0.259 AC: 1336 AN: 5158

South Asian (SAS) AF: 0.105 AC: 506 AN: 4822

European-Finnish (FIN) AF: 0.0262 AC: 278 AN: 10596

Middle Eastern (MID) AF: 0.0952 AC: 28 AN: 294

European-Non Finnish (NFE) AF: 0.0741 AC: 5040 AN: 68012

Other (OTH) AF: 0.147 AC: 310 AN: 2114

Alfa AF: 0.100 Hom.: 2413

Bravo AF: 0.203

Asia WGS AF: 0.181 AC: 629 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	5.7
DANN	Benign	0.76
PhyloP100		1.6

Splicing

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

Other links and lift over

dbSNP: rs7204293; hg19: chr16-50028105;