NM_014252.4(SLC25A15):c.331_335del (p.Ala111fs) AND Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 13, 2024
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:: RCV003472833.2

Allele description [Variation Report for NM_014252.4(SLC25A15):c.331_335del (p.Ala111fs)]

NM_014252.4(SLC25A15):c.331_335del (p.Ala111fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

13q14.11

Genomic location:

Preferred name:

NM_014252.4(SLC25A15):c.331_335del (p.Ala111fs)

HGVS:

NC_000013.11:g.40805134_40805138del
NG_012248.1:g.20724_20728del
NM_014252.4:c.331_335delMANE SELECT
NP_055067.1:p.Ala111fs
NC_000013.10:g.41379270_41379274del

Protein change:

A111fs

Molecular consequence:

NM_014252.4:c.331_335del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS)
Synonyms:: Ornithine translocase deficiency syndrome; HHH syndrome; Ornithine translocase deficiency
Identifiers:: MONDO: MONDO:0009393; MedGen: C0268540; Orphanet: 415; OMIM: 238970

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004201697	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 13, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004201697

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 13, 2024)

unknown

clinical testing

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

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Baylor Genetics, SCV004201697.2

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

#	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: Jun 17, 2024

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