NM_014252.4(SLC25A15):c.815C>T (p.Thr272Ile) AND Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: May 31, 2012
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000006365.1

Allele description

NM_014252.4(SLC25A15):c.815C>T (p.Thr272Ile)

Gene:

SLC25A15:solute carrier family 25 member 15 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.11

Genomic location:

Preferred name:

NM_014252.4(SLC25A15):c.815C>T (p.Thr272Ile)

HGVS:

NC_000013.11:g.40809576C>T
NG_012248.1:g.25166C>T
NM_014252.4:c.815C>T
NP_055067.1:p.Thr272Ile
NC_000013.10:g.41383712C>T
NM_014252.3:c.815C>T
Q9Y619:p.Thr272Ile

Protein change:

T272I; THR272ILE

Links:

UniProtKB: Q9Y619#VAR_058954; OMIM: 603861.0008; dbSNP: rs121908535

NCBI 1000 Genomes Browser:

rs121908535

Molecular consequence:

NM_014252.4:c.815C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Identifiers:: MedGen: C0268540; Orphanet: 415; OMIM: 238970

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000026547	OMIM	no assertion criteria provided	Pathogenic (May 1, 2009)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000054632	GeneReviews	no assertion criteria provided	pathologic (May 31, 2012)	not provided	curation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000026547

OMIM

no assertion criteria provided

Pathogenic
(May 1, 2009)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

SCV000054632

GeneReviews

no assertion criteria provided

pathologic
(May 31, 2012)

not provided

curation

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	not provided	not provided	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.

Tessa A, Fiermonte G, Dionisi-Vici C, Paradies E, Baumgartner MR, Chien YH, Loguercio C, de Baulny HO, Nassogne MC, Schiff M, Deodato F, Parenti G, Rutledge SL, Vilaseca MA, Melone MA, Scarano G, Aldamiz-Echevarría L, Besley G, Walter J, Martinez-Hernandez E, Hernandez JM, Pierri CL, et al.

Hum Mutat. 2009 May;30(5):741-8. doi: 10.1002/humu.20930.

PubMed [citation]

PMID:: 19242930

Details of each submission

From OMIM, SCV000026547.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a 2-year-old Taiwanese child with HHH syndrome (238970) since infancy, Tessa et al. (2009) identified a homozygous 815C-T transition in exon 7 of the SLC25A15 gene, resulting in a thr272-to-ile (T272I) substitution in a transmembrane alpha-helix. The substitution was predicted to interfere with the formation of crucial bonds due to steric hindrance. In vitro functional expression studies showed that the mutant protein had less than 20% residual transport activity. The patient presented in infancy with lethargy, coma, liver dysfunction, and coagulopathy.

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

From GeneReviews, SCV000054632.1

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

Description

Converted during submission to Pathogenic.

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

Last Updated: Nov 2, 2019

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