chr3-41094730-C-CCAACCTGGATT

Position:

• chr3-41094730-C-CCAACCTGGATT

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.48 (18283 hom., cov: 0)
• Consequence: intergenic_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.101

Genes affected

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.547 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.41094730_41094731insCAACCTGGATT		intergenic_region

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.482 AC: 73102 AN: 151566 Hom.: 18271 Cov.: 0

Gnomad AFR AF: 0.395

Gnomad AMI AF: 0.522

Gnomad AMR AF: 0.434

Gnomad ASJ AF: 0.415

Gnomad EAS AF: 0.359

Gnomad SAS AF: 0.349

Gnomad FIN AF: 0.591

Gnomad MID AF: 0.383

Gnomad NFE AF: 0.552

Gnomad OTH AF: 0.486

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

GnomAD4 genome AF: 0.482 AC: 73156 AN: 151684 Hom.: 18283 Cov.: 0 AF XY: 0.477 AC XY: 35323 AN XY: 74122

Gnomad4 AFR AF: 0.395

Gnomad4 AMR AF: 0.434

Gnomad4 ASJ AF: 0.415

Gnomad4 EAS AF: 0.359

Gnomad4 SAS AF: 0.348

Gnomad4 FIN AF: 0.591

Gnomad4 NFE AF: 0.552

Gnomad4 OTH AF: 0.484

Alfa AF: 0.504 Hom.: 2098

Asia WGS AF: 0.378 AC: 1315 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2067235; hg19: chr3-41136221;