U.S. flag

An official website of the United States government

NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 28, 2023
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:
RCV005031397.1

Allele description [Variation Report for NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs)]

NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs)

Gene:
SLC25A13:solute carrier family 25 member 13 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
7q21.3
Genomic location:
Preferred name:
NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs)
Other names:
1638ins23; p.Ala554Glyfs*17
HGVS:
  • NC_000007.13:g.95751240_95751241insCCCGGGCAGCCACCTGTAATCTC
  • NC_000007.14:g.96121929_96121951dup
  • NG_012247.2:g.205197_205219dup
  • NM_001160210.2:c.1641_1663dup
  • NM_014251.3:c.1638_1660dupMANE SELECT
  • NP_001153682.1:p.Ala555fs
  • NP_055066.1:p.Ala554fs
  • NC_000007.13:g.95751240_95751241insCCCGGGCAGCCACCTGTAATCTC
  • NC_000007.13:g.95751241_95751263dup
  • NC_000007.13:g.95751241_95751263dupCCCGGGCAGCCACCTGTAATCTC
  • NM_014251.2:c.1638_1660dup23
  • NM_014251.3:c.1638_1660dup
  • NR_027662.2:n.1664_1686dup
Protein change:
A554fs
Links:
OMIM: 603859.0003; dbSNP: rs80338725
NCBI 1000 Genomes Browser:
rs80338725
Molecular consequence:
  • NM_001160210.2:c.1641_1663dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014251.3:c.1638_1660dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027662.2:n.1664_1686dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Neonatal intrahepatic cholestasis due to citrin deficiency (CDNI)
Synonyms:
Neonatal-onset citrullinemia type II; CITRIN DEFICIENCY, NEONATAL OR INFANTILE ONSET; Neonatal-onset citrullinemia type 2
Identifiers:
MONDO: MONDO:0011601; MedGen: C1853942; Orphanet: 247598; OMIM: 605814
Name:
Citrullinemia, type II, adult-onset (CDAA)
Synonyms:
CITRIN DEFICIENCY, ADOLESCENT OR ADULT ONSET
Identifiers:
MONDO: MONDO:0011326; MedGen: CN295299; Orphanet: 247585; OMIM: 603471

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV005671914Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Dec 28, 2023)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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 Fulgent Genetics, Fulgent Genetics, SCV005671914.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 16, 2025