1-12164239-TC-TCC

Position:

• chr1-12164239-TC-TCC

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

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

• Frequency:
  • Genomes: 𝑓 0.029 (67 hom., cov: 31)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.507

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

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: 0.00 AC: 4310 AN: 146854 Hom.: 65 Cov.: 31 FAILED QC

Gnomad AFR AF: 0.0190

Gnomad AMI AF: 0.0364

Gnomad AMR AF: 0.0196

Gnomad ASJ AF: 0.0378

Gnomad EAS AF: 0.0144

Gnomad SAS AF: 0.0187

Gnomad FIN AF: 0.0165

Gnomad MID AF: 0.00323

Gnomad NFE AF: 0.0411

Gnomad OTH AF: 0.0271

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

GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0295 AC: 4332 AN: 146960 Hom.: 67 Cov.: 31 AF XY: 0.0272 AC XY: 1944 AN XY: 71578

Gnomad4 AFR AF: 0.0195

Gnomad4 AMR AF: 0.0195

Gnomad4 ASJ AF: 0.0378

Gnomad4 EAS AF: 0.0144

Gnomad4 SAS AF: 0.0185

Gnomad4 FIN AF: 0.0165

Gnomad4 NFE AF: 0.0411

Gnomad4 OTH AF: 0.0294

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: rs35752907; hg19: chr1-12224296;