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NM_016335.6(PRODH):c.1765C>T (p.Arg589Trp) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 25, 2021
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:
RCV002683789.9

Allele description [Variation Report for NM_016335.6(PRODH):c.1765C>T (p.Arg589Trp)]

NM_016335.6(PRODH):c.1765C>T (p.Arg589Trp)

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.1765C>T (p.Arg589Trp)
HGVS:
  • NC_000022.11:g.18913213G>A
  • NG_008226.3:g.28341C>T
  • NG_009052.1:g.11991G>A
  • NM_001195226.2:c.1441C>T
  • NM_001368250.2:c.1441C>T
  • NM_016335.6:c.1765C>TMANE SELECT
  • NP_001182155.2:p.Arg481Trp
  • NP_001355179.2:p.Arg481Trp
  • NP_057419.5:p.Arg589Trp
  • NC_000022.10:g.18900726G>A
  • NM_016335.4:c.1765C>T
Protein change:
R481W
Molecular consequence:
  • NM_001195226.2:c.1441C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368250.2:c.1441C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016335.6:c.1765C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003554762Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 25, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003554762.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1765C>T (p.R589W) alteration is located in exon 15 (coding exon 14) of the PRODH gene. This alteration results from a C to T substitution at nucleotide position 1765, causing the arginine (R) at amino acid position 589 to be replaced by a tryptophan (W). The p.R589W alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Jul 15, 2024