22-35164206-CAAAAA-CAAAAAAAA

Position:

• chr22-35164206-CAAAAA-CAAAAAAAA

Variant summary

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

The ENST00000423311.1(LINC01399):​n.512+7226_512+7228dupTTT variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 0.0033 (10 hom., cov: 0)
  • Exomes 𝑓: 0.0 (0 hom.)
  • Failed GnomAD Quality Control
• Consequence: LINC01399 ENST00000423311.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.226

Genes affected

LINC01399 (HGNC:):

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
LINC01399	NR_126356.1	n.512+7226_512+7228dupTTT		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
LINC01399	ENST00000423311.1	n.512+7226_512+7228dupTTT		intron_variant		3

Frequencies

GnomAD3 genomes AF: 0.00 AC: 386 AN: 115966 Hom.: 10 Cov.: 0 FAILED QC

Gnomad AFR AF: 0.00774

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00380

Gnomad ASJ AF: 0.00196

Gnomad EAS AF: 0.00149

Gnomad SAS AF: 0.00125

Gnomad FIN AF: 0.000510

Gnomad MID AF: 0.00391

Gnomad NFE AF: 0.00147

Gnomad OTH AF: 0.00397

GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0 AN: 10 Hom.: 0 AF XY: 0.00 AC XY: 0 AN XY: 10

Gnomad4 FIN exome AF: 0.00

Gnomad4 NFE exome AF: 0.00

GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.00334 AC: 387 AN: 115938 Hom.: 10 Cov.: 0 AF XY: 0.00336 AC XY: 180 AN XY: 53620

Gnomad4 AFR AF: 0.00773

Gnomad4 AMR AF: 0.00390

Gnomad4 ASJ AF: 0.00196

Gnomad4 EAS AF: 0.00150

Gnomad4 SAS AF: 0.00126

Gnomad4 FIN AF: 0.000510

Gnomad4 NFE AF: 0.00147

Gnomad4 OTH AF: 0.00396

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: rs134315; hg19: chr22-35560199;