chr9-27109315-T-TG
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Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBA1
The NM_000459.5(TEK):c.-275dup variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.111 in 571,032 control chromosomes in the GnomAD database, including 10,134 homozygotes. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.11 ( 1794 hom., cov: 31)
Exomes 𝑓: 0.11 ( 8340 hom. )
Consequence
TEK
NM_000459.5 5_prime_UTR
NM_000459.5 5_prime_UTR
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 2.81
Genes affected
TEK (HGNC:11724): (TEK receptor tyrosine kinase) This gene encodes a receptor that belongs to the protein tyrosine kinase Tie2 family. The encoded protein possesses a unique extracellular region that contains two immunoglobulin-like domains, three epidermal growth factor (EGF)-like domains and three fibronectin type III repeats. The ligand angiopoietin-1 binds to this receptor and mediates a signaling pathway that functions in embryonic vascular development. Mutations in this gene are associated with inherited venous malformations of the skin and mucous membranes. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -10 ACMG points.
BP6
Variant 9-27109315-T-TG is Benign according to our data. Variant chr9-27109315-T-TG is described in ClinVar as [Benign]. Clinvar id is 366388.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.597 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TEK | NM_000459.5 | c.-275dup | 5_prime_UTR_variant | 1/23 | ENST00000380036.10 | ||
TEK | NM_001290077.1 | c.-275dup | 5_prime_UTR_variant | 1/22 | |||
TEK | NM_001290078.1 | c.-275dup | 5_prime_UTR_variant | 1/21 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TEK | ENST00000380036.10 | c.-275dup | 5_prime_UTR_variant | 1/23 | 1 | NM_000459.5 | P1 | ||
TEK | ENST00000519097.5 | c.-275dup | 5_prime_UTR_variant | 1/21 | 2 | ||||
TEK | ENST00000615002.4 | c.-275dup | 5_prime_UTR_variant | 1/23 | 5 |
Frequencies
GnomAD3 genomes AF: 0.105 AC: 15960AN: 152060Hom.: 1782 Cov.: 31
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GnomAD4 exome AF: 0.113 AC: 47298AN: 418854Hom.: 8340 Cov.: 0 AF XY: 0.114 AC XY: 24887AN XY: 218788
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GnomAD4 genome AF: 0.105 AC: 15997AN: 152178Hom.: 1794 Cov.: 31 AF XY: 0.113 AC XY: 8433AN XY: 74396
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
Multiple cutaneous and mucosal venous malformations Benign:1
Benign, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jun 14, 2016 | - - |
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at