NM_001002755.2(NFU1):c.545+9T>C AND Multiple mitochondrial dysfunctions syndrome 1

Clinical significance:Likely benign (Last evaluated: Nov 22, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000649048.1

Allele description [Variation Report for NM_001002755.2(NFU1):c.545+9T>C]

NM_001002755.2(NFU1):c.545+9T>C

Gene:
NFU1:NFU1 iron-sulfur cluster scaffold [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.3
Genomic location:
Preferred name:
NM_001002755.2(NFU1):c.545+9T>C
HGVS:
  • NC_000002.12:g.69406013A>G
  • NG_031931.1:g.36616T>C
  • NM_001002755.2:c.545+9T>C
  • NC_000002.11:g.69633145A>G
Links:
dbSNP: rs767405381
NCBI 1000 Genomes Browser:
rs767405381
Molecular consequence:
  • NM_001002755.2:c.545+9T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000770873Invitaecriteria provided, single submitter
Likely benign
(Nov 22, 2017)
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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000770873.1

#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: Mar 30, 2019

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