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NM_000137.4(FAH):c.1063-2A>G

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 4, 2020
Accession:
VCV000558219.2
Variation ID:
558219
Description:
single nucleotide variant
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NM_000137.4(FAH):c.1063-2A>G

Allele ID
547619
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q25.1
Genomic location
15: 80181040 (GRCh38) GRCh38 UCSC
15: 80473382 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.80181040A>G
NC_000015.9:g.80473382A>G
NG_012833.1:g.33042A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:80181039:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1555442385
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Mar 4, 2020 RCV000674452.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FAH - - GRCh38
GRCh37
393 412

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 10, 2018)
criteria provided, single submitter
Method: clinical testing
Tyrosinemia type I
Allele origin: unknown
Counsyl
Accession: SCV000799790.1
Submitted: (Jul 10, 2018)
Evidence details
Pathogenic
(Mar 04, 2020)
criteria provided, single submitter
Method: clinical testing
Tyrosinemia type I
Allele origin: germline
Invitae
Accession: SCV001592922.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change affects an acceptor splice site in intron 12 of the FAH gene. It is expected to disrupt RNA splicing and likely results … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Biochemical and molecular diagnosis of tyrosinemia type I with two novel FAH mutations in a Hong Kong chinese patient: recommendation for expanded newborn screening in Hong Kong. Mak CM Clinical biochemistry 2013 PMID: 23000314
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547
Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries. Bergman AJ Human mutation 1998 PMID: 9633815
Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview. St-Louis M Human mutation 1997 PMID: 9101289

Text-mined citations for rs1555442385...

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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