rs11947034

Variant names:

• chr4-35770609-A-C
• rs11947034

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 0.155 in 152,188 control chromosomes in the GnomAD database, including 3,222 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 0.15 (3222 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.481
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.369 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: 0.154 AC: 23494 AN: 152070 Hom.: 3196 Cov.: 33

Gnomad AFR AF: 0.373

Gnomad AMI AF: 0.0899

Gnomad AMR AF: 0.0885

Gnomad ASJ AF: 0.128

Gnomad EAS AF: 0.0187

Gnomad SAS AF: 0.146

Gnomad FIN AF: 0.110

Gnomad MID AF: 0.165

Gnomad NFE AF: 0.0576

Gnomad OTH AF: 0.124

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

GnomAD4 genome AF: 0.155 AC: 23572 AN: 152188 Hom.: 3222 Cov.: 33 AF XY: 0.155 AC XY: 11500 AN XY: 74420

African (AFR) AF: 0.374 AC: 15504 AN: 41468

American (AMR) AF: 0.0884 AC: 1352 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.128 AC: 444 AN: 3472

East Asian (EAS) AF: 0.0187 AC: 97 AN: 5184

South Asian (SAS) AF: 0.146 AC: 704 AN: 4830

European-Finnish (FIN) AF: 0.110 AC: 1162 AN: 10604

Middle Eastern (MID) AF: 0.167 AC: 49 AN: 294

European-Non Finnish (NFE) AF: 0.0576 AC: 3918 AN: 68016

Other (OTH) AF: 0.123 AC: 260 AN: 2112

Alfa AF: 0.0851 Hom.: 4195

Bravo AF: 0.160

Asia WGS AF: 0.101 AC: 352 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	2.9
DANN	Benign	0.46
PhyloP100		-0.48

Splicing

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

Other links and lift over

dbSNP: rs11947034; hg19: chr4-35772231;