rs7941030

Variant names:

• chr11-122651667-T-C
• rs7941030

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 0.391 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
• Publications: 84 publications found

ACMG classification

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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

African (AFR) AF: 0.434 AC: 17982 AN: 41402

American (AMR) AF: 0.364 AC: 5554 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.255 AC: 884 AN: 3468

East Asian (EAS) AF: 0.316 AC: 1623 AN: 5130

South Asian (SAS) AF: 0.367 AC: 1766 AN: 4812

European-Finnish (FIN) AF: 0.360 AC: 3789 AN: 10526

Middle Eastern (MID) AF: 0.350 AC: 103 AN: 294

European-Non Finnish (NFE) AF: 0.392 AC: 26603 AN: 67906

Other (OTH) AF: 0.384 AC: 810 AN: 2110

Alfa AF: 0.384 Hom.: 49061

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
PhyloP100		0.24

Splicing

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

Other links and lift over

dbSNP: rs7941030; hg19: chr11-122522375;