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NM_000287.4(PEX6):c.2082del (p.Gly695fs) AND Heimler syndrome 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 22, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003472104.1

Allele description [Variation Report for NM_000287.4(PEX6):c.2082del (p.Gly695fs)]

NM_000287.4(PEX6):c.2082del (p.Gly695fs)

Gene:
PEX6:peroxisomal biogenesis factor 6 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_000287.4(PEX6):c.2082del (p.Gly695fs)
HGVS:
  • NC_000006.12:g.42966538del
  • NG_008370.1:g.17707del
  • NM_000287.4:c.2082delMANE SELECT
  • NM_001316313.2:c.1818del
  • NP_000278.3:p.Gly695fs
  • NP_001303242.1:p.Gly607fs
  • NC_000006.11:g.42934275del
  • NC_000006.11:g.42934276del
  • NM_000287.3:c.2082del
  • NM_000287.3:c.2082delT
  • NR_133009.2:n.2113del
Protein change:
G607fs
Links:
dbSNP: rs766483138
NCBI 1000 Genomes Browser:
rs766483138
Molecular consequence:
  • NM_000287.4:c.2082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001316313.2:c.1818del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_133009.2:n.2113del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Heimler syndrome 2 (HMLR2)
Synonyms:
PEROXISOME BIOGENESIS DISORDER 4C
Identifiers:
MedGen: C4225267; Orphanet: 3220; OMIM: 616617

Recent activity

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  • Hippocampus
    Hippocampus
    A curved elevation of GRAY MATTER extending the entire length of the floor of the TEMPORAL HORN of the LATERAL VENTRICLE (see also TEMPORAL LOBE). The hippocampus proper, subi...<br/>Year introduced: 2015(1966)
    MeSH
  • Blood-Brain Barrier
    Blood-Brain Barrier
    Specialized non-fenestrated tightly-joined ENDOTHELIAL CELLS with TIGHT JUNCTIONS that form a transport barrier for certain substances between the cerebral capillaries and the...<br/>Year introduced: 1966
    MeSH

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004201573Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Apr 22, 2023) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Baylor Genetics, SCV004201573.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024