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NM_000287.4(PEX6):c.2T>G (p.Met1Arg) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 16, 2017
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:
RCV000670830.1

Allele description [Variation Report for NM_000287.4(PEX6):c.2T>G (p.Met1Arg)]

NM_000287.4(PEX6):c.2T>G (p.Met1Arg)

Gene:
PEX6:peroxisomal biogenesis factor 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_000287.4(PEX6):c.2T>G (p.Met1Arg)
HGVS:
  • NC_000006.12:g.42979149A>C
  • NG_008370.1:g.5095T>G
  • NM_000287.4:c.2T>GMANE SELECT
  • NM_001316313.2:c.2T>G
  • NP_000278.3:p.Met1Arg
  • NP_001303242.1:p.Met1Arg
  • NC_000006.11:g.42946887A>C
  • NM_000287.3:c.2T>G
  • NR_133009.2:n.33T>G
Protein change:
M1R
Links:
dbSNP: rs1554128597
NCBI 1000 Genomes Browser:
rs1554128597
Molecular consequence:
  • NM_000287.4:c.2T>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001316313.2:c.2T>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_000287.4:c.2T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316313.2:c.2T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_133009.2:n.33T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Peroxisome biogenesis disorder 4A (Zellweger) (PBD4A)
Synonyms:
Zellweger syndrome spectrum (PEX6-related)
Identifiers:
MONDO: MONDO:0013930; MedGen: C3553936; Orphanet: 912; OMIM: 614862
Name:
Peroxisome biogenesis disorder 4B (PBD4B)
Identifiers:
MONDO: MONDO:0013931; MedGen: C3553937; Orphanet: 44; OMIM: 614863

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000795736Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely pathogenic
(Nov 16, 2017) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Counsyl, SCV000795736.2

#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: Sep 3, 2023