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NM_031448.6(C19orf12):c.161G>T (p.Gly54Val) AND Neurodegeneration with brain iron accumulation 4

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 31, 2020
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:
RCV001095481.2

Allele description [Variation Report for NM_031448.6(C19orf12):c.161G>T (p.Gly54Val)]

NM_031448.6(C19orf12):c.161G>T (p.Gly54Val)

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>T (p.Gly54Val)
HGVS:
  • NC_000019.10:g.29702977C>A
  • NG_031970.2:g.17813G>T
  • NM_001031726.4:c.161G>T
  • NM_001256046.3:c.161G>T
  • NM_001256047.2:c.161G>T
  • NM_001282929.1:c.-32G>T
  • NM_001282930.3:c.-32G>T
  • NM_001282931.3:c.-32G>T
  • NM_031448.6:c.161G>TMANE SELECT
  • NP_001026896.2:p.Gly65Val
  • NP_001026896.3:p.Gly54Val
  • NP_001242975.1:p.Gly54Val
  • NP_001242976.1:p.Gly54Val
  • NP_113636.2:p.Gly54Val
  • NC_000019.9:g.30193884C>A
  • NM_001031726.3:c.194G>T
  • NM_031448.4:c.161G>T
Protein change:
G54V
Links:
dbSNP: rs752450983
NCBI 1000 Genomes Browser:
rs752450983
Molecular consequence:
  • NM_001282929.1:c.-32G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001282930.3:c.-32G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001282931.3:c.-32G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001031726.4:c.161G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256046.3:c.161G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256047.2:c.161G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_031448.6:c.161G>T - missense variant - [Sequence Ontology: SO:0001583]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001251027Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Mar 31, 2020) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University, SCV001251027.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 8, 2024