rs11947034

chr4-35770609-A-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 0.155 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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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;