rs713756

Variant names:

• chr22-44402430-G-A
• rs713756

Your query was ambiguous. Multiple possible variants found:

• chr22-44402430-G-A
• chr22-44402430-G-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 0.0813 in 152,282 control chromosomes in the GnomAD database, including 784 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 0.081 (784 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0480

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.308 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: 0.0813 AC: 12378 AN: 152164 Hom.: 784 Cov.: 33

Gnomad AFR AF: 0.0299

Gnomad AMI AF: 0.191

Gnomad AMR AF: 0.0811

Gnomad ASJ AF: 0.147

Gnomad EAS AF: 0.320

Gnomad SAS AF: 0.135

Gnomad FIN AF: 0.0624

Gnomad MID AF: 0.139

Gnomad NFE AF: 0.0878

Gnomad OTH AF: 0.107

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

GnomAD4 genome AF: 0.0813 AC: 12381 AN: 152282 Hom.: 784 Cov.: 33 AF XY: 0.0825 AC XY: 6142 AN XY: 74462

Gnomad4 AFR AF: 0.0298

Gnomad4 AMR AF: 0.0811

Gnomad4 ASJ AF: 0.147

Gnomad4 EAS AF: 0.321

Gnomad4 SAS AF: 0.135

Gnomad4 FIN AF: 0.0624

Gnomad4 NFE AF: 0.0878

Gnomad4 OTH AF: 0.107

Alfa AF: 0.0845 Hom.: 248

Bravo AF: 0.0832

Asia WGS AF: 0.184 AC: 641 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	1.1
DANN	Benign	0.50

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs713756; hg19: chr22-44798310;