U.S. flag

An official website of the United States government

NM_031448.6(C19orf12):c.161G>A (p.Gly54Glu) AND Neurodegeneration with brain iron accumulation 4

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 3, 2018
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:
RCV000754614.1

Allele description [Variation Report for NM_031448.6(C19orf12):c.161G>A (p.Gly54Glu)]

NM_031448.6(C19orf12):c.161G>A (p.Gly54Glu)

Gene:
C19orf12:chromosome 19 open reading frame 12 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q12
Genomic location:
Preferred name:
NM_031448.6(C19orf12):c.161G>A (p.Gly54Glu)
HGVS:
  • NC_000019.10:g.29702977C>T
  • NG_031970.2:g.17813G>A
  • NM_001031726.4:c.161G>A
  • NM_001256046.3:c.161G>A
  • NM_001256047.2:c.161G>A
  • NM_001282929.1:c.-32G>A
  • NM_001282930.3:c.-32G>A
  • NM_001282931.3:c.-32G>A
  • NM_031448.6:c.161G>AMANE SELECT
  • NP_001026896.2:p.Gly65Glu
  • NP_001026896.3:p.Gly54Glu
  • NP_001242975.1:p.Gly54Glu
  • NP_001242976.1:p.Gly54Glu
  • NP_113636.2:p.Gly54Glu
  • NC_000019.9:g.30193884C>T
  • NM_001031726.3:c.194G>A
Protein change:
G54E
Links:
dbSNP: rs752450983
NCBI 1000 Genomes Browser:
rs752450983
Molecular consequence:
  • NM_001282929.1:c.-32G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001282930.3:c.-32G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001282931.3:c.-32G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001031726.4:c.161G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256046.3:c.161G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256047.2:c.161G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_031448.6:c.161G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Unknown function
Observations:
1

Condition(s)

Name:
Neurodegeneration with brain iron accumulation 4 (NBIA4)
Synonyms:
MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION
Identifiers:
MONDO: MONDO:0013674; MedGen: C3280371; Orphanet: 289560; OMIM: 614298

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000863970Aziz Sancar Institute of Experimental Medicine, Istanbul University
no assertion criteria provided
Pathogenic
(Mar 3, 2018) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Turkishgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Aziz Sancar Institute of Experimental Medicine, Istanbul University, SCV000863970.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Turkish1not providednot providedclinical testingnot provided

Description

This variant is associated with neurodegeneration with brain iron accumulation (spasticity, dystonia, optic atrophy).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024