NM_000137.4(FAH):c.298_300del (p.Thr100del) AND Tyrosinemia type I

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 21, 2017
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:: RCV000670957.1

Allele description [Variation Report for NM_000137.4(FAH):c.298_300del (p.Thr100del)]

NM_000137.4(FAH):c.298_300del (p.Thr100del)

Gene:

FAH:fumarylacetoacetate hydrolase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

15q25.1

Genomic location:

Preferred name:

NM_000137.4(FAH):c.298_300del (p.Thr100del)

HGVS:

NC_000015.10:g.80159861_80159863del
NG_012833.1:g.11863_11865del
NM_000137.4:c.298_300delMANE SELECT
NM_001374377.1:c.298_300del
NM_001374380.1:c.298_300del
NP_000128.1:p.Thr100del
NP_001361306.1:p.Thr100del
NP_001361309.1:p.Thr100del
NC_000015.9:g.80452203_80452205del
NM_000137.2:c.298_300delACC

Protein change:

T100del

Links:

dbSNP: rs1555440545

NCBI 1000 Genomes Browser:

rs1555440545

Molecular consequence:

NM_000137.4:c.298_300del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001374377.1:c.298_300del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001374380.1:c.298_300del - inframe_deletion - [Sequence Ontology: SO:0001822]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000795884	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Nov 21, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000795884

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Nov 21, 2017)

unknown

clinical testing

Citation Link

Help

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, SCV000795884.1

#	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: Apr 23, 2022

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