NM_006214.4(PHYH):c.717C>T (p.Tyr239=) AND Phytanic acid storage disease

Clinical significance:Likely benign (Last evaluated: Jun 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_006214.4(PHYH):c.717C>T (p.Tyr239=)]

NM_006214.4(PHYH):c.717C>T (p.Tyr239=)

PHYH:phytanoyl-CoA 2-hydroxylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_006214.4(PHYH):c.717C>T (p.Tyr239=)
  • NC_000010.11:g.13283801G>A
  • NG_012862.1:g.21330C>T
  • NM_001037537.1:c.417C>T
  • NM_001323080.1:c.417C>T
  • NM_001323082.1:c.723C>T
  • NM_001323083.1:c.453C>T
  • NM_001323084.1:c.423C>T
  • NM_006214.4:c.717C>TMANE SELECT
  • NP_001032626.1:p.Tyr139=
  • NP_001310009.1:p.Tyr139=
  • NP_001310011.1:p.Tyr241=
  • NP_001310012.1:p.Tyr151=
  • NP_001310013.1:p.Tyr141=
  • NP_006205.1:p.Tyr239=
  • NC_000010.10:g.13325801G>A
  • NM_006214.3:c.717C>T
  • NP_006205.1:p.(=)
  • NP_006205.1:p.(=)
dbSNP: rs142720126
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001037537.1:c.417C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001323080.1:c.417C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001323082.1:c.723C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001323083.1:c.453C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001323084.1:c.423C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_006214.4:c.717C>T - synonymous variant - [Sequence Ontology: SO:0001819]


Phytanic acid storage disease (RDPA)
HMSN IV; REFSUM DISEASE, CLASSIC; Disorder of cornification 11 (phytanic acid type); See all synonyms [MedGen]
MONDO: MONDO:0009958; MedGen: C0034960; Orphanet: 773; OMIM: 266500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000745258Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensuscriteria provided, single submitter
Likely benign
(Jun 28, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV000745258.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 16, 2021

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