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NM_001002755.4(NFU1):c.545+5G>A AND Multiple mitochondrial dysfunctions syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 7, 2017
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:
RCV000578252.5

Allele description [Variation Report for NM_001002755.4(NFU1):c.545+5G>A]

NM_001002755.4(NFU1):c.545+5G>A

Gene:
NFU1:NFU1 iron-sulfur cluster scaffold [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.3
Genomic location:
Preferred name:
NM_001002755.4(NFU1):c.545+5G>A
HGVS:
  • NC_000002.12:g.69406017C>T
  • NG_031931.1:g.36612G>A
  • NM_001002755.4:c.545+5G>AMANE SELECT
  • NM_001002756.2:c.122+5G>A
  • NM_001374284.1:c.473+5G>A
  • NM_015700.4:c.473+5G>A
  • NC_000002.11:g.69633149C>T
Links:
dbSNP: rs756085990
NCBI 1000 Genomes Browser:
rs756085990
Molecular consequence:
  • NM_001002755.4:c.545+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001002756.2:c.122+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374284.1:c.473+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_015700.4:c.473+5G>A - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Multiple mitochondrial dysfunctions syndrome 1 (MMDS1)
Identifiers:
MONDO: MONDO:0011582; MedGen: C3276432; Orphanet: 401869; OMIM: 605711

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000680317Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
criteria provided, single submitter

(Classification criteria August 2017)		Pathogenic
(Dec 7, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV000680317.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1bloodnot provided1not providednot providednot provided

Last Updated: Jun 23, 2024