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NM_016335.6(PRODH):c.1576C>T (p.Gln526Ter) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 28, 2022
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:
RCV002496070.1

Allele description [Variation Report for NM_016335.6(PRODH):c.1576C>T (p.Gln526Ter)]

NM_016335.6(PRODH):c.1576C>T (p.Gln526Ter)

Gene:
PRODH:proline dehydrogenase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q11.21
Genomic location:
Preferred name:
NM_016335.6(PRODH):c.1576C>T (p.Gln526Ter)
HGVS:
  • NC_000022.11:g.18913477G>A
  • NG_008226.3:g.28077C>T
  • NG_009052.1:g.12255G>A
  • NM_001195226.2:c.1252C>T
  • NM_016335.6:c.1576C>TMANE SELECT
  • NP_001182155.2:p.Gln418Ter
  • NP_057419.5:p.Gln526Ter
  • NC_000022.10:g.18900990G>A
  • NG_008226.2:g.28077C>T
  • NM_016335.4:c.1576C>T
  • NM_016335.5:c.1576C>T
Protein change:
Q418*
Links:
dbSNP: rs372187772
NCBI 1000 Genomes Browser:
rs372187772
Molecular consequence:
  • NM_001195226.2:c.1252C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_016335.6:c.1576C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Proline dehydrogenase deficiency (HYRPRO1)
Synonyms:
PROLINE OXIDASE DEFICIENCY; Hyperprolinemia type 1
Identifiers:
MONDO: MONDO:0009400; MedGen: C0268529; Orphanet: 419; OMIM: 239500
Name:
Schizophrenia 4 (SCZD4)
Synonyms:
SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 22q11-RELATED; SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4
Identifiers:
MONDO: MONDO:0010943; MedGen: C1833247; OMIM: 600850

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002777818Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 28, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

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 Fulgent Genetics, Fulgent Genetics, SCV002777818.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024