2-218381926-CGTGTGTGT-CGTGTGT

Position:

• chr2-218381926-CGTGTGTGT-CGTGTGT

Variant summary

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

The variant allele was found at a frequency of 0.00912 in 183,708 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 0.00021 (0 hom., cov: 21)
  • Exomes 𝑓: 0.047 (0 hom.)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.180

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAdExome4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.0522 is higher than 0.05.

Transcripts

RefSeq

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

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.000209 AC: 31 AN: 148516 Hom.: 0 Cov.: 21

Gnomad AFR AF: 0.000173

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.000135

Gnomad ASJ AF: 0.000292

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.000424

Gnomad FIN AF: 0.000304

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.000239

Gnomad OTH AF: 0.00

GnomAD4 exome AF: 0.0469 AC: 1645 AN: 35106 Hom.: 0 AF XY: 0.0483 AC XY: 902 AN XY: 18690

Gnomad4 AFR exome AF: 0.0525

Gnomad4 AMR exome AF: 0.0449

Gnomad4 ASJ exome AF: 0.0488

Gnomad4 EAS exome AF: 0.0470

Gnomad4 SAS exome AF: 0.0596

Gnomad4 FIN exome AF: 0.0427

Gnomad4 NFE exome AF: 0.0452

Gnomad4 OTH exome AF: 0.0515

GnomAD4 genome AF: 0.000209 AC: 31 AN: 148602 Hom.: 0 Cov.: 21 AF XY: 0.000207 AC XY: 15 AN XY: 72348

Gnomad4 AFR AF: 0.000173

Gnomad4 AMR AF: 0.000134

Gnomad4 ASJ AF: 0.000292

Gnomad4 EAS AF: 0.00

Gnomad4 SAS AF: 0.000426

Gnomad4 FIN AF: 0.000304

Gnomad4 NFE AF: 0.000239

Gnomad4 OTH AF: 0.00

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: rs34448891; hg19: chr2-219246649;