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NM_000137.4(FAH):c.372C>A (p.Tyr124Ter) AND Tyrosinemia type I

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 16, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001389730.4

Allele description

NM_000137.4(FAH):c.372C>A (p.Tyr124Ter)

Gene:
FAH:fumarylacetoacetate hydrolase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q25.1
Genomic location:
Preferred name:
NM_000137.4(FAH):c.372C>A (p.Tyr124Ter)
HGVS:
  • NC_000015.10:g.80162253C>A
  • NG_012833.1:g.14255C>A
  • NM_000137.4:c.372C>AMANE SELECT
  • NM_001374377.1:c.372C>A
  • NM_001374380.1:c.372C>A
  • NP_000128.1:p.Tyr124Ter
  • NP_001361306.1:p.Tyr124Ter
  • NP_001361309.1:p.Tyr124Ter
  • NC_000015.9:g.80454595C>A
Protein change:
Y124*
Links:
dbSNP: rs1193030161
NCBI 1000 Genomes Browser:
rs1193030161
Molecular consequence:
  • NM_000137.4:c.372C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374377.1:c.372C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374380.1:c.372C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Tyrosinemia type I (TYRSN1)
Synonyms:
Tyrosinemia type 1; Hepatorenal tyrosinemia; FAH deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010161; MedGen: C0268490; Orphanet: 882; OMIM: 276700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001591183Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jul 16, 2020) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.

St-Louis M, Tanguay RM.

Hum Mutat. 1997;9(4):291-9. Review.

PubMed [citation]
PMID:
9101289

Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.

Bergman AJ, van den Berg IE, Brink W, Poll-The BT, Ploos van Amstel JK, Berger R.

Hum Mutat. 1998;12(1):19-26.

PubMed [citation]
PMID:
9633815
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001591183.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Tyr124*) in the FAH gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FAH-related conditions. Loss-of-function variants in FAH are known to be pathogenic (PMID: 9101289, 9633815). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 28, 2024