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NM_000507.4(FBP1):c.720_729del (p.Tyr241fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2017)
Last evaluated:
Mar 27, 2017
Accession:
VCV000403701.1
Variation ID:
403701
Description:
10bp deletion
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NM_000507.4(FBP1):c.720_729del (p.Tyr241fs)

Allele ID
390671
Variant type
Deletion
Variant length
10 bp
Cytogenetic location
9q22.32
Genomic location
9: 94605553-94605562 (GRCh38) GRCh38 UCSC
9: 97367835-97367844 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.97367837_97367846del
NC_000009.12:g.94605555_94605564del
NG_008174.1:g.39688_39697del
... more HGVS
Protein change
Y241fs
Other names
-
Canonical SPDI
NC_000009.12:94605552:GGCCCCATAAGG:GG
Functional consequence
amphigoric amino acid deletion [Variation Ontology VariO:0017]
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16609828
dbSNP: rs1060499726
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Mar 27, 2017 RCV000456113.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FBP1 - - GRCh38
GRCh37
133 167

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 27, 2017)
criteria provided, single submitter
Method: clinical testing
Fructose-biphosphatase deficiency
(Autosomal recessive inheritance)
Allele origin: germline
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center
Accession: SCV000537873.1
Submitted: (Mar 28, 2017)
Evidence details

Functional evidence

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Functional consequence Method Result Submitter Supporting information
amphigoric amino acid deletion
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center
Accession: SCV000537873.1
Submitted: (Mar 28, 2017)
Evidence details

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1060499726...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021