NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys) AND Fatal multiple mitochondrial dysfunctions syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 30, 2017
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:: RCV000508655.4

Allele description [Variation Report for NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys)]

NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys)

Gene:

ISCA1:iron-sulfur cluster assembly 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q21.33

Genomic location:

Preferred name:

NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys)

HGVS:

NC_000009.12:g.86266174C>T
NM_030940.4:c.259G>AMANE SELECT
NP_112202.2:p.Glu87Lys
NC_000009.11:g.88881089C>T
NM_030940.3:c.259G>A

Protein change:

E87K; GLU87LYS

Links:

OMIM: 611006.0001; dbSNP: rs776679653

NCBI 1000 Genomes Browser:

rs776679653

Molecular consequence:

NM_030940.4:c.259G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Fatal multiple mitochondrial dysfunctions syndrome
Synonyms:: Multiple mitochondrial dysfunctions syndrome
Identifiers:: MONDO: MONDO:0017338; MedGen: C3502075; OMIM: PS605711

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000328646	Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	no assertion criteria provided	Pathogenic (Jan 30, 2017)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000328646

Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

no assertion criteria provided

Pathogenic
(Jan 30, 2017)

germline

research

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
Asian	germline	yes	2	2	not provided	not provided	not provided	research

Citations

PubMed

Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

Shukla A, Hebbar M, Srivastava A, Kadavigere R, Upadhyai P, Kanthi A, Brandau O, Bielas S, Girisha KM.

J Hum Genet. 2017 Jul;62(7):723-727. doi: 10.1038/jhg.2017.35. Epub 2017 Mar 30.

PubMed [citation]

PMID:: 28356563
PMCID:: PMC5484744

Details of each submission

From Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India, SCV000328646.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Asian	2	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		2	not provided	2	not provided

Last Updated: Jun 23, 2024

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