9-127815213-CAGTT-C
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBA1
The NM_001114753.3(ENG):c.*465_*468delAACT variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0706 in 156,490 control chromosomes in the GnomAD database, including 438 homozygotes. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Genomes: 𝑓 0.071 ( 427 hom., cov: 32)
Exomes 𝑓: 0.058 ( 11 hom. )
Consequence
ENG
NM_001114753.3 3_prime_UTR
NM_001114753.3 3_prime_UTR
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 0.815
Genes affected
ENG (HGNC:3349): (endoglin) This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and it binds to the beta1 and beta3 peptides with high affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known as Osler-Rendu-Weber syndrome 1, an autosomal dominant multisystemic vascular dysplasia. This gene may also be involved in preeclampsia and several types of cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]
Genome browser will be placed here
ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -10 ACMG points.
BP6
Variant 9-127815213-CAGTT-C is Benign according to our data. Variant chr9-127815213-CAGTT-C is described in ClinVar as [Likely_benign]. Clinvar id is 365078.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr9-127815213-CAGTT-C is described in Lovd as [Benign].
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.187 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ENG | NM_001114753.3 | c.*465_*468delAACT | 3_prime_UTR_variant | Exon 15 of 15 | ENST00000373203.9 | NP_001108225.1 | ||
ENG | NM_000118.4 | c.*700_*703delAACT | 3_prime_UTR_variant | Exon 14 of 14 | NP_000109.1 | |||
ENG | NM_001278138.2 | c.*465_*468delAACT | 3_prime_UTR_variant | Exon 15 of 15 | NP_001265067.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENG | ENST00000373203 | c.*465_*468delAACT | 3_prime_UTR_variant | Exon 15 of 15 | 1 | NM_001114753.3 | ENSP00000362299.4 | |||
ENG | ENST00000344849 | c.*700_*703delAACT | 3_prime_UTR_variant | Exon 14 of 14 | 1 | ENSP00000341917.3 | ||||
ENG | ENST00000480266 | c.*465_*468delAACT | 3_prime_UTR_variant | Exon 15 of 15 | 2 | ENSP00000479015.1 |
Frequencies
GnomAD3 genomes AF: 0.0710 AC: 10807AN: 152182Hom.: 426 Cov.: 32
GnomAD3 genomes
AF:
AC:
10807
AN:
152182
Hom.:
Cov.:
32
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
GnomAD4 exome AF: 0.0582 AC: 244AN: 4190Hom.: 11 AF XY: 0.0619 AC XY: 135AN XY: 2180
GnomAD4 exome
AF:
AC:
244
AN:
4190
Hom.:
AF XY:
AC XY:
135
AN XY:
2180
Gnomad4 AFR exome
AF:
Gnomad4 AMR exome
AF:
Gnomad4 ASJ exome
AF:
Gnomad4 EAS exome
AF:
Gnomad4 SAS exome
AF:
Gnomad4 FIN exome
AF:
Gnomad4 NFE exome
AF:
Gnomad4 OTH exome
AF:
GnomAD4 genome AF: 0.0709 AC: 10802AN: 152300Hom.: 427 Cov.: 32 AF XY: 0.0735 AC XY: 5471AN XY: 74486
GnomAD4 genome
AF:
AC:
10802
AN:
152300
Hom.:
Cov.:
32
AF XY:
AC XY:
5471
AN XY:
74486
Gnomad4 AFR
AF:
Gnomad4 AMR
AF:
Gnomad4 ASJ
AF:
Gnomad4 EAS
AF:
Gnomad4 SAS
AF:
Gnomad4 FIN
AF:
Gnomad4 NFE
AF:
Gnomad4 OTH
AF:
Alfa
AF:
Hom.:
Bravo
AF:
Asia WGS
AF:
AC:
412
AN:
3478
ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
Telangiectasia, hereditary hemorrhagic, type 1 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jun 14, 2016 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at