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NM_000288.4(PEX7):c.86C>T (p.Pro29Leu) AND Rhizomelic chondrodysplasia punctata

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 16, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001275003.1

Allele description [Variation Report for NM_000288.4(PEX7):c.86C>T (p.Pro29Leu)]

NM_000288.4(PEX7):c.86C>T (p.Pro29Leu)

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.86C>T (p.Pro29Leu)
Other names:
p.Pro29Leu
HGVS:
  • NC_000006.12:g.136822751C>T
  • NG_008462.1:g.5172C>T
  • NM_000288.4:c.86C>TMANE SELECT
  • NP_000279.1:p.Pro29Leu
  • NC_000006.11:g.137143889C>T
  • NM_000288.3:c.86C>T
Protein change:
P29L
Links:
dbSNP: rs757852291
NCBI 1000 Genomes Browser:
rs757852291
Molecular consequence:
  • NM_000288.4:c.86C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Rhizomelic chondrodysplasia punctata (RCDP)
Identifiers:
MONDO: MONDO:0015776; MedGen: C0282529; OMIM: PS215100

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001459664Natera, Inc.
no assertion criteria provided
Uncertain significance
(Sep 16, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001459664.1

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

Last Updated: Nov 18, 2024