2-133813171-GA-GAA

Position:

• chr2-133813171-GA-GAA

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 0.35 (9347 hom., cov: 0)
• Consequence: intergenic_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.129

Genes affected

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.396 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.133813171_133813172insA		intergenic_region

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.346 AC: 52169 AN: 150582 Hom.: 9344 Cov.: 0

Gnomad AFR AF: 0.401

Gnomad AMI AF: 0.430

Gnomad AMR AF: 0.277

Gnomad ASJ AF: 0.503

Gnomad EAS AF: 0.159

Gnomad SAS AF: 0.257

Gnomad FIN AF: 0.347

Gnomad MID AF: 0.405

Gnomad NFE AF: 0.339

Gnomad OTH AF: 0.360

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

GnomAD4 genome AF: 0.346 AC: 52199 AN: 150696 Hom.: 9347 Cov.: 0 AF XY: 0.344 AC XY: 25256 AN XY: 73498

Gnomad4 AFR AF: 0.401

Gnomad4 AMR AF: 0.277

Gnomad4 ASJ AF: 0.503

Gnomad4 EAS AF: 0.160

Gnomad4 SAS AF: 0.256

Gnomad4 FIN AF: 0.347

Gnomad4 NFE AF: 0.339

Gnomad4 OTH AF: 0.358

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: rs11446594; hg19: chr2-134570742;