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NM_000287.4(PEX6):c.1335C>G (p.Leu445=) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jun 10, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000596605.10

Allele description [Variation Report for NM_000287.4(PEX6):c.1335C>G (p.Leu445=)]

NM_000287.4(PEX6):c.1335C>G (p.Leu445=)

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.1335C>G (p.Leu445=)
HGVS:
  • NC_000006.12:g.42969700G>C
  • NG_008370.1:g.14544C>G
  • NM_000287.4:c.1335C>GMANE SELECT
  • NM_001316313.2:c.1071C>G
  • NP_000278.3:p.Leu445=
  • NP_001303242.1:p.Leu357=
  • NC_000006.11:g.42937438G>C
  • NM_000287.3:c.1335C>G
  • NR_133009.2:n.1366C>G
Links:
dbSNP: rs142958800
NCBI 1000 Genomes Browser:
rs142958800
Molecular consequence:
  • NR_133009.2:n.1366C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000287.4:c.1335C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001316313.2:c.1071C>G - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
3

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000707117Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)		Uncertain significance
(Jun 28, 2018) 		germlineclinical testing

Citation Link,

SCV003814870Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jun 10, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown3not 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 Eurofins Ntd Llc (ga), SCV000707117.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

From Revvity Omics, Revvity, SCV003814870.2

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

Last Updated: Sep 29, 2024