NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs) AND not provided

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Aug 11, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000726889.10

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]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000703906	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Nov 18, 2016)	germline	clinical testing	Citation Link,
SCV002020659	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 10, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004226563	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 11, 2022)	germline	clinical testing	PubMed (10) [See all records that cite these PMIDs] 10369257, 11432966, 19413723, 20927635, 23067347, 23901231, 30098237, 34295780, 8105687, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000703906

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Nov 18, 2016)

germline

clinical testing

Citation Link,

SCV002020659

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 10, 2021)

germline

clinical testing

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

SCV004226563

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Aug 11, 2022)

germline

clinical testing

PubMed (10)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	4	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.

Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, Yasuda T, Ikeda S, Hirano R, Terazono H, Crackower MA, Kondo I, Tsui LC, Scherer SW, Saheki T.

Nat Genet. 1999 Jun;22(2):159-63.

PubMed [citation]

PMID:: 10369257

A Chinese adult onset type II citrullinaemia patient with 851del4/1638ins23 mutations in the SLC25A13 gene.

Hwu WL, Kobayashi K, Hu YH, Yamaguchi N, Saheki T, Chou SP, Wang JH.

J Med Genet. 2001 Jul;38(7):E23. No abstract available.

PubMed [citation]

PMID:: 11432966
PMCID:: PMC1757188

See all PubMed Citations (10)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000703906.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	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	germline	unknown	not provided	not provided	not provided		3	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV002020659.3

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV004226563.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (10)

Description

PM2, PM3_strong, PVS1

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

Last Updated: Mar 16, 2024

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