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NM_017791.3(FLVCR2):c.402C>G (p.Tyr134Ter)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jan 9, 2012)
Last evaluated:
Oct 1, 2010
Accession:
VCV000030856.1
Variation ID:
30856
Description:
single nucleotide variant
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NM_017791.3(FLVCR2):c.402C>G (p.Tyr134Ter)

Allele ID
39813
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q24.3
Genomic location
14: 75579374 (GRCh38) GRCh38 UCSC
14: 76045717 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.76045717C>G
NC_000014.9:g.75579374C>G
NM_017791.3:c.402C>G NP_060261.2:p.Tyr134Ter nonsense
... more HGVS
Protein change
Y134*
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
OMIM: 610865.0008
dbSNP: rs759296326
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Oct 1, 2010 RCV000023841.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FLVCR2 - - GRCh38
GRCh37
36 74
LOC102724153 - - - GRCh38 - 25

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 01, 2010)
no assertion criteria provided
Method: literature only
PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME
Allele origin: germline
OMIM
Accession: SCV000045132.4
Submitted: (Jan 09, 2012)
Evidence details
Publications
PubMed (1)
Bessieres-Grattagliano, B.,  (more...)

Citations for this variant

Title Author Journal Year Link
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy. Thomas S Human mutation 2010 PMID: 20690116
Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal cases. Bessières-Grattagliano B European journal of medical genetics 2009 PMID: 19635601
Bessieres-Grattagliano, B., Foliguet, B., Devisme, L., Loeuillet, L., Marcorelles, P., Bonniere, M., Laquerriere, A., Fallet-Bianco, C., Martinovic, J., Zrelli, S., Leticee, N., Cayol, V., Etchevers, H. C., Vekemans, M., Attie-Bitach, T., Encha-Razavi, F. Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal cases. Europ. J. Med. Genet. 52: 386-392, 2009. - - - -

Record last updated Aug 25, 2019