chr1-92263655-AC-A
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Variant summary
Our verdict is Pathogenic. Variant got 12 ACMG points: 12P and 0B. PVS1PM2PP5_Moderate
The NM_053274.3(GLMN):c.1376del(p.Gly459ValfsTer17) variant causes a frameshift change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Pathogenic (★). Variant results in nonsense mediated mRNA decay.
Frequency
Genomes: not found (cov: 33)
Consequence
GLMN
NM_053274.3 frameshift
NM_053274.3 frameshift
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 5.62
Genes affected
GLMN (HGNC:14373): (glomulin, FKBP associated protein) This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Multiple splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
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ACMG classification
Classification made for transcript
Verdict is Pathogenic. Variant got 12 ACMG points.
PVS1
Loss of function variant, product undergoes nonsense mediated mRNA decay. LoF is a known mechanism of disease.
PM2
Very rare variant in population databases, with high coverage;
PP5
Variant 1-92263655-AC-A is Pathogenic according to our data. Variant chr1-92263655-AC-A is described in ClinVar as [Pathogenic]. Clinvar id is 1323020.Status of the report is criteria_provided_single_submitter, 1 stars.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GLMN | NM_053274.3 | c.1376del | p.Gly459ValfsTer17 | frameshift_variant | 15/19 | ENST00000370360.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GLMN | ENST00000370360.8 | c.1376del | p.Gly459ValfsTer17 | frameshift_variant | 15/19 | 1 | NM_053274.3 | P1 | |
GLMN | ENST00000495106.5 | c.*37del | 3_prime_UTR_variant, NMD_transcript_variant | 14/18 | 1 | ||||
GLMN | ENST00000495852.6 | c.599del | p.Gly200ValfsTer17 | frameshift_variant | 7/10 | 5 | |||
GLMN | ENST00000463560.1 | c.639del | p.Gly214ValfsTer17 | frameshift_variant | 8/9 | 5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 genomes
Cov.:
33
GnomAD4 exome Cov.: 26
GnomAD4 exome
Cov.:
26
GnomAD4 genome Cov.: 33
GnomAD4 genome
Cov.:
33
ClinVar
Significance: Pathogenic
Submissions summary: Pathogenic:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
Glomuvenous malformation Pathogenic:1
Pathogenic, criteria provided, single submitter | clinical testing | Revvity Omics, Revvity | Feb 24, 2020 | - - |
Computational scores
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Calibrated prediction
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Prediction
Splicing
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Calibrated prediction
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Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.