NM_006214.4(PHYH):c.1010_1012dup (p.Leu338_Ter339insHis) AND Nonsyndromic cleft lip palate

Clinical significance:Likely pathogenic (Last evaluated: Mar 27, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000755124.1

Allele description [Variation Report for NM_006214.4(PHYH):c.1010_1012dup (p.Leu338_Ter339insHis)]

NM_006214.4(PHYH):c.1010_1012dup (p.Leu338_Ter339insHis)

Gene:
PHYH:phytanoyl-CoA 2-hydroxylase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
10p13
Genomic location:
Preferred name:
NM_006214.4(PHYH):c.1010_1012dup (p.Leu338_Ter339insHis)
HGVS:
  • NC_000010.11:g.13278306_13278308dup
  • NG_012862.1:g.26823_26825dup
  • NM_001037537.1:c.710_712dup
  • NM_001323080.1:c.710_712dup
  • NM_001323082.1:c.1016_1018dup
  • NM_001323083.1:c.746_748dup
  • NM_001323084.1:c.716_718dup
  • NM_006214.4:c.1010_1012dupMANE SELECT
  • NP_001032626.1:p.Leu238_Ter239insHis
  • NP_001310009.1:p.Leu238_Ter239insHis
  • NP_001310011.1:p.Leu340_Ter341insHis
  • NP_001310012.1:p.Leu250_Ter251insHis
  • NP_001310013.1:p.Leu240_Ter241insHis
  • NP_006205.1:p.Leu338_Ter339insHis
  • NC_000010.10:g.13320305_13320306insGAT
  • NC_000010.10:g.13320306_13320308dup
  • NM_006214.3:c.1010_1012dup
  • NM_006214.3:c.1010_1012dupATC
  • p.Asn337_Leu338insHis
Links:
dbSNP: rs566116760
NCBI 1000 Genomes Browser:
rs566116760
Molecular consequence:
  • NM_001037537.1:c.710_712dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001323080.1:c.710_712dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001323082.1:c.1016_1018dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001323083.1:c.746_748dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001323084.1:c.716_718dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_006214.4:c.1010_1012dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:
Nonsyndromic cleft lip palate
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000882946University of Washington Center for Mendelian Genomics, University of Washingtonno assertion criteria providedLikely pathogenic
(Mar 27, 2016)
inheritedresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes2not providednot providednot providednot providedresearch

Citations

PubMed

Using Whole Exome Sequencing to Identify Candidate Genes With Rare Variants In Nonsyndromic Cleft Lip and Palate.

Aylward A, Cai Y, Lee A, Blue E, Rabinowitz D, Haddad J Jr; University of Washington Center for Mendelian Genomics..

Genet Epidemiol. 2016 Jul;40(5):432-41. doi: 10.1002/gepi.21972. Epub 2016 May 27.

PubMed [citation]
PMID:
27229527
PMCID:
PMC4985012

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV000882946.1

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

Last Updated: Oct 16, 2021

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