NM_000137.4(FAH):c.492del (p.Ser165fs) AND Tyrosinemia type I

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 4, 2016
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:: RCV000409803.2

Allele description [Variation Report for NM_000137.4(FAH):c.492del (p.Ser165fs)]

NM_000137.4(FAH):c.492del (p.Ser165fs)

Gene:

FAH:fumarylacetoacetate hydrolase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

15q25.1

Genomic location:

Preferred name:

NM_000137.4(FAH):c.492del (p.Ser165fs)

HGVS:

NC_000015.10:g.80168088del
NG_012833.1:g.20090del
NM_000137.4:c.492delMANE SELECT
NM_001374377.1:c.492del
NM_001374380.1:c.492del
NP_000128.1:p.Ser165fs
NP_001361306.1:p.Ser165fs
NP_001361309.1:p.Ser165fs
NC_000015.9:g.80460430del
NM_000137.2:c.492delC

Protein change:

S165fs

Links:

dbSNP: rs1057517113

NCBI 1000 Genomes Browser:

rs1057517113

Molecular consequence:

NM_000137.4:c.492del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374377.1:c.492del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374380.1:c.492del - frameshift variant - [Sequence Ontology: SO:0001589]

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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LOC4324303 [Oryza sativa Japonica Group]
LOC4324303 [Oryza sativa Japonica Group]
Gene ID:4324303

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000486765	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Aug 4, 2016)	unknown	clinical testing	mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000486765

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Likely pathogenic
(Aug 4, 2016)

unknown

clinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Counsyl, SCV000486765.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2022

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