NM_000288.4(PEX7):c.339+2T>C AND Rhizomelic chondrodysplasia punctata type 1

Clinical significance:Likely pathogenic (Last evaluated: Jul 18, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000409658.1

Allele description [Variation Report for NM_000288.4(PEX7):c.339+2T>C]

NM_000288.4(PEX7):c.339+2T>C

Gene:
PEX7:peroxisomal biogenesis factor 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q23.3
Genomic location:
Preferred name:
NM_000288.4(PEX7):c.339+2T>C
HGVS:
  • NC_000006.12:g.136826471T>C
  • NG_008462.1:g.8892T>C
  • NM_000288.4:c.339+2T>CMANE SELECT
  • NC_000006.11:g.137147609T>C
  • NM_000288.3:c.339+2T>C
Links:
dbSNP: rs1057517059
NCBI 1000 Genomes Browser:
rs1057517059
Molecular consequence:
  • NM_000288.4:c.339+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Rhizomelic chondrodysplasia punctata type 1 (RCDP1)
Synonyms:
Chondrodysplasia punctata rhizomelic form; Chondrodystrophia calcificans punctata; PEROXISOME BIOGENESIS DISORDER 9
Identifiers:
MONDO: MONDO:0008972; MedGen: C1859133; Orphanet: 177; OMIM: 215100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000486682Counsylcriteria provided, single submitter
Likely pathogenic
(Jul 18, 2016)
unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000486682.1

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

Last Updated: Oct 7, 2021

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