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NM_001002755.4(NFU1):c.301A>G (p.Arg101Gly) AND SPASTIC PARAPLEGIA 93, AUTOSOMAL RECESSIVE

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 9, 2024
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:
RCV004699452.1

Allele description [Variation Report for NM_001002755.4(NFU1):c.301A>G (p.Arg101Gly)]

NM_001002755.4(NFU1):c.301A>G (p.Arg101Gly)

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.301A>G (p.Arg101Gly)
HGVS:
  • NC_000002.12:g.69423583T>C
  • NG_031931.1:g.19046A>G
  • NM_001002755.4:c.301A>GMANE SELECT
  • NM_001002756.2:c.-121-3979A>G
  • NM_001374284.1:c.229A>G
  • NM_015700.4:c.229A>G
  • NP_001002755.1:p.Arg101Gly
  • NP_001361213.1:p.Arg77Gly
  • NP_056515.2:p.Arg77Gly
  • NC_000002.11:g.69650715T>C
  • NM_001002755.2:c.301A>G
Protein change:
R101G; ARG101GLY
Links:
OMIM: 608100.0005; dbSNP: rs2104792930
NCBI 1000 Genomes Browser:
rs2104792930
Molecular consequence:
  • NM_001002756.2:c.-121-3979A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001002755.4:c.301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374284.1:c.229A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015700.4:c.229A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
SPASTIC PARAPLEGIA 93, AUTOSOMAL RECESSIVE (SPG93)
Identifiers:
MedGen: CN378513; OMIM: 620938

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005201142OMIM
no assertion criteria provided
Pathogenic
(Sep 9, 2024) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Phenotypic continuum of NFU1-related disorders.

Kaiyrzhanov R, Zaki MS, Lau T, Sen S, Azizimalamiri R, Zamani M, Sayin GY, Hilander T, Efthymiou S, Chelban V, Brown R, Thompson K, Scarano MI, Ganesh J, Koneev K, Gülaçar IM, Person R, Sadykova D, Maidyrov Y, Seifi T, Zadagali A, Bernard G, et al.

Ann Clin Transl Neurol. 2022 Dec;9(12):2025-2035. doi: 10.1002/acn3.51679. Epub 2022 Oct 18.

PubMed [citation]
PMID:
36256512
PMCID:
PMC9735368

Details of each submission

From OMIM, SCV005201142.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the c.301A-G transition (c.301A-G, NM_001002755.4) in the NFU1 gene, resulting in an arg101-to-gly (R101G) substitution, that was identified in compound heterozygous state in a patient (family 2) with autosomal recessive spastic paraplegia-93 (SPG93; 620938) by Kaiyrzhanov et al. (2022), see 608100.0004.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024