rs11947034

Variant names:

• chr4-35770609-A-C
• rs11947034

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 0.155 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

ACMG classification

Verdict is Benign. Variant got -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

Gnomad4 AFR AF: 0.374

Gnomad4 AMR AF: 0.0884

Gnomad4 ASJ AF: 0.128

Gnomad4 EAS AF: 0.0187

Gnomad4 SAS AF: 0.146

Gnomad4 FIN AF: 0.110

Gnomad4 NFE AF: 0.0576

Gnomad4 OTH AF: 0.123

Alfa AF: 0.0755 Hom.: 1336

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11947034; hg19: chr4-35772231;