rs7202844

Variant names:

• chr16-75213493-A-G
• rs7202844

Your query was ambiguous. Multiple possible variants found:

• chr16-75213493-A-G
• chr16-75213493-A-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 0.137 in 152,152 control chromosomes in the GnomAD database, including 1,646 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 0.14 (1646 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.274

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.205 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: 0.137 AC: 20792 AN: 152034 Hom.: 1639 Cov.: 33

Gnomad AFR AF: 0.209

Gnomad AMI AF: 0.124

Gnomad AMR AF: 0.107

Gnomad ASJ AF: 0.0763

Gnomad EAS AF: 0.203

Gnomad SAS AF: 0.0802

Gnomad FIN AF: 0.139

Gnomad MID AF: 0.0732

Gnomad NFE AF: 0.102

Gnomad OTH AF: 0.130

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

GnomAD4 genome AF: 0.137 AC: 20820 AN: 152152 Hom.: 1646 Cov.: 33 AF XY: 0.136 AC XY: 10137 AN XY: 74390

Gnomad4 AFR AF: 0.209

Gnomad4 AMR AF: 0.107

Gnomad4 ASJ AF: 0.0763

Gnomad4 EAS AF: 0.203

Gnomad4 SAS AF: 0.0786

Gnomad4 FIN AF: 0.139

Gnomad4 NFE AF: 0.102

Gnomad4 OTH AF: 0.132

Alfa AF: 0.118 Hom.: 161

Bravo AF: 0.139

Asia WGS AF: 0.157 AC: 548 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.20
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: rs7202844; hg19: chr16-75247391;