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NM_033163.5(FGF8):c.157G>C (p.Val53Leu)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jun 6, 2018)
Last evaluated:
Apr 19, 2018
Accession:
VCV000545459.1
Variation ID:
545459
Description:
single nucleotide variant
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NM_033163.5(FGF8):c.157G>C (p.Val53Leu)

Allele ID
535719
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q24.32
Genomic location
10: 101774912 (GRCh38) GRCh38 UCSC
10: 103534669 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.103534669C>G
NC_000010.11:g.101774912C>G
NG_007151.1:g.6159G>C
... more HGVS
Protein change
V53L, V24L
Other names
-
Canonical SPDI
NC_000010.11:101774911:C:G
Functional consequence
Variation affecting splicing function of RNA [Variation Ontology VariO:0397]
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1554834889
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Apr 19, 2018 RCV000656426.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FGF8 - - GRCh38
GRCh37
45 63

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Apr 19, 2018)
criteria provided, single submitter
Method: research
Holoprosencephaly sequence
Allele origin: not applicable
Muenke lab,National Institutes of Health
Accession: SCV000746204.1
Submitted: (Jun 06, 2018)
Evidence details
Publications
PubMed (1)
Comment:
Consistent clinical presentation. One of multiple examples of alternative splicing eliminating the production of the most potent alternative splice forms. Predicted to be benign as … (more)

Functional evidence

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Functional consequence Method Result Submitter Supporting information
Variation affecting splicing function of RNA
  1. Constructs modeling the e and f isoforms for the human FGF8 were prepared. Synthetic mRNA for each isoform was micro-injected into zebrafish embryos. Clear potency differences were detected consistent with reduced FGF8 function for the variant human FGF8 allele.
  1. Result not provided
Muenke lab,National Institutes of Health
Accession: SCV000746204.1
Submitted: (Jun 06, 2018)
Evidence details
Publications
PubMed (1)

Citations for this variant

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Title Author Journal Year Link
Loss-of-function mutations in FGF8 can be independent risk factors for holoprosencephaly. Hong S Human molecular genetics 2018 PMID: 29584859

Text-mined citations for rs1554834889...

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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