chr9-27109315-T-TG

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

Scores

Not classified

Clinical Significance

Benign criteria provided, single submitter B:1

Conservation

PhyloP100: 2.81
Variant links:
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]

Genome browser will be placed here

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
TEKNM_000459.5 linkuse as main transcriptc.-275dup 5_prime_UTR_variant 1/23 ENST00000380036.10
TEKNM_001290077.1 linkuse as main transcriptc.-275dup 5_prime_UTR_variant 1/22
TEKNM_001290078.1 linkuse as main transcriptc.-275dup 5_prime_UTR_variant 1/21

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
TEKENST00000380036.10 linkuse as main transcriptc.-275dup 5_prime_UTR_variant 1/231 NM_000459.5 P1Q02763-1
TEKENST00000519097.5 linkuse as main transcriptc.-275dup 5_prime_UTR_variant 1/212 Q02763-3
TEKENST00000615002.4 linkuse as main transcriptc.-275dup 5_prime_UTR_variant 1/235

Frequencies

GnomAD3 genomes
AF:
0.105
AC:
15960
AN:
152060
Hom.:
1782
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.120
Gnomad AMI
AF:
0.0241
Gnomad AMR
AF:
0.159
Gnomad ASJ
AF:
0.0214
Gnomad EAS
AF:
0.615
Gnomad SAS
AF:
0.190
Gnomad FIN
AF:
0.104
Gnomad MID
AF:
0.0411
Gnomad NFE
AF:
0.0449
Gnomad OTH
AF:
0.0880
GnomAD4 exome
AF:
0.113
AC:
47298
AN:
418854
Hom.:
8340
Cov.:
0
AF XY:
0.114
AC XY:
24887
AN XY:
218788
show subpopulations
Gnomad4 AFR exome
AF:
0.122
Gnomad4 AMR exome
AF:
0.192
Gnomad4 ASJ exome
AF:
0.0196
Gnomad4 EAS exome
AF:
0.668
Gnomad4 SAS exome
AF:
0.157
Gnomad4 FIN exome
AF:
0.0969
Gnomad4 NFE exome
AF:
0.0454
Gnomad4 OTH exome
AF:
0.0984
GnomAD4 genome
AF:
0.105
AC:
15997
AN:
152178
Hom.:
1794
Cov.:
31
AF XY:
0.113
AC XY:
8433
AN XY:
74396
show subpopulations
Gnomad4 AFR
AF:
0.120
Gnomad4 AMR
AF:
0.160
Gnomad4 ASJ
AF:
0.0214
Gnomad4 EAS
AF:
0.615
Gnomad4 SAS
AF:
0.190
Gnomad4 FIN
AF:
0.104
Gnomad4 NFE
AF:
0.0449
Gnomad4 OTH
AF:
0.0946
Alfa
AF:
0.0686
Hom.:
84
Bravo
AF:
0.113
Asia WGS
AF:
0.358
AC:
1241
AN:
3478

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 submitterclinical testingIllumina Laboratory Services, IlluminaJun 14, 2016- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.080
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs3837240; hg19: chr9-27109313; API