rs7941030

chr11-122651667-T-C

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 0.391 in 151,820 control chromosomes in the GnomAD database, including 11,800 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 0.39 (11800 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.243

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.429 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.390 AC: 59222 AN: 151702 Hom.: 11765 Cov.: 31

Gnomad AFR AF: 0.433

Gnomad AMI AF: 0.209

Gnomad AMR AF: 0.365

Gnomad ASJ AF: 0.255

Gnomad EAS AF: 0.317

Gnomad SAS AF: 0.367

Gnomad FIN AF: 0.360

Gnomad MID AF: 0.361

Gnomad NFE AF: 0.392

Gnomad OTH AF: 0.377

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

GnomAD4 genome AF: 0.391 AC: 59305 AN: 151820 Hom.: 11800 Cov.: 31 AF XY: 0.386 AC XY: 28633 AN XY: 74178

Gnomad4 AFR AF: 0.434

Gnomad4 AMR AF: 0.364

Gnomad4 ASJ AF: 0.255

Gnomad4 EAS AF: 0.316

Gnomad4 SAS AF: 0.367

Gnomad4 FIN AF: 0.360

Gnomad4 NFE AF: 0.392

Gnomad4 OTH AF: 0.384

Alfa AF: 0.379 Hom.: 23379

Bravo AF: 0.388

Asia WGS AF: 0.394 AC: 1372 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
Cadd	Benign	3.3
Dann	Benign	0.53

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7941030; hg19: chr11-122522375;