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NM_004813.4(PEX16):c.760G>C (p.Val254Leu) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000845059.1

Allele description [Variation Report for NM_004813.4(PEX16):c.760G>C (p.Val254Leu)]

NM_004813.4(PEX16):c.760G>C (p.Val254Leu)

Gene:
PEX16:peroxisomal biogenesis factor 16 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_004813.4(PEX16):c.760G>C (p.Val254Leu)
HGVS:
  • NC_000011.10:g.45914138C>G
  • NG_008460.1:g.8986G>C
  • NM_004813.4:c.760G>CMANE SELECT
  • NM_057174.3:c.760G>C
  • NP_004804.2:p.Val254Leu
  • NP_476515.1:p.Val254Leu
  • NP_476515.2:p.Val254Leu
  • NC_000011.9:g.45935689C>G
  • NM_004813.2:c.760G>C
  • NM_057174.2:c.760G>C
  • Q9Y5Y5:p.Val254Leu
Protein change:
V254L
Links:
UniProtKB: Q9Y5Y5#VAR_034145; dbSNP: rs35214605
NCBI 1000 Genomes Browser:
rs35214605
Molecular consequence:
  • NM_004813.4:c.760G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_057174.3:c.760G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Peroxisome biogenesis disorder 8A (Zellweger)
Synonyms:
Peroxisome biogenesis disorder 8A
Identifiers:
MONDO: MONDO:0013942; MedGen: C3553959; Orphanet: 912; OMIM: 614876
Name:
Peroxisome biogenesis disorder 8B (PBD8B)
Identifiers:
MONDO: MONDO:0013943; MedGen: C3553960; Orphanet: 44; OMIM: 614877

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000986900GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000986900.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpretted as Likely benign and reported on 10/30/2014 by GTR ID 320384. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Nov 24, 2024