rs722345

Variant names:

• chr11-128279170-G-A
• rs722345

Your query was ambiguous. Multiple possible variants found:

• chr11-128279170-G-A
• chr11-128279170-G-C
• chr11-128279170-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 0.305 in 151,848 control chromosomes in the GnomAD database, including 8,058 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 0.30 (8058 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.147

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.66).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.412 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: 0.305 AC: 46319 AN: 151730 Hom.: 8062 Cov.: 30

Gnomad AFR AF: 0.161

Gnomad AMI AF: 0.411

Gnomad AMR AF: 0.238

Gnomad ASJ AF: 0.397

Gnomad EAS AF: 0.0640

Gnomad SAS AF: 0.261

Gnomad FIN AF: 0.350

Gnomad MID AF: 0.411

Gnomad NFE AF: 0.416

Gnomad OTH AF: 0.312

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

GnomAD4 genome AF: 0.305 AC: 46307 AN: 151848 Hom.: 8058 Cov.: 30 AF XY: 0.298 AC XY: 22078 AN XY: 74206

Gnomad4 AFR AF: 0.160

Gnomad4 AMR AF: 0.237

Gnomad4 ASJ AF: 0.397

Gnomad4 EAS AF: 0.0643

Gnomad4 SAS AF: 0.261

Gnomad4 FIN AF: 0.350

Gnomad4 NFE AF: 0.416

Gnomad4 OTH AF: 0.309

Alfa AF: 0.353 Hom.: 3206

Bravo AF: 0.290

Asia WGS AF: 0.149 AC: 517 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.66
CADD	Benign	8.2
DANN	Benign	0.94

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs722345; hg19: chr11-128149065;