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NM_000137.4(FAH):c.243G>A (p.Ala81=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Sep 23, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000196216.7
Variation ID:
196216
Description:
single nucleotide variant
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NM_000137.4(FAH):c.243G>A (p.Ala81=)

Allele ID
193377
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q25.1
Genomic location
15: 80159806 (GRCh38) GRCh38 UCSC
15: 80452148 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.80159806G>A
NG_012833.1:g.11808G>A
NM_000137.4:c.243G>A MANE Select NP_000128.1:p.Ala81= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:80159805:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00047
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00041
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00062
Exome Aggregation Consortium (ExAC) 0.00030
The Genome Aggregation Database (gnomAD), exomes 0.00041
Trans-Omics for Precision Medicine (TOPMed) 0.00042
The Genome Aggregation Database (gnomAD) 0.00067
Links
ClinGen: CA243106
dbSNP: rs36122289
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jun 13, 2018 RCV000724789.4
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Dec 4, 2020 RCV001087467.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FAH - - GRCh38
GRCh37
396 415

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 29, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000228789.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Tyrosinemia type I
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000394044.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Tyrosinemia type I
Allele origin: germline
Invitae
Accession: SCV001027608.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jun 13, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000525447.5
Submitted: (Sep 23, 2021)
Evidence details
Likely benign
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Tyrosinemia type I
Allele origin: germline
Natera, Inc.
Accession: SCV001461575.1
Submitted: (Dec 28, 2020)
Evidence details

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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=FAH - - - -

Text-mined citations for rs36122289...

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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 Dec 04, 2021