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NM_000466.3(PEX1):c.1360-4G>T AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 12, 2022
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:
RCV002521991.2

Allele description [Variation Report for NM_000466.3(PEX1):c.1360-4G>T]

NM_000466.3(PEX1):c.1360-4G>T

Gene:
PEX1:peroxisomal biogenesis factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q21.2
Genomic location:
Preferred name:
NM_000466.3(PEX1):c.1360-4G>T
HGVS:
  • NC_000007.14:g.92511707C>A
  • NG_008341.2:g.21825G>T
  • NM_000466.3:c.1360-4G>TMANE SELECT
  • NM_001282677.2:c.1360-4G>T
  • NM_001282678.2:c.736-4G>T
  • NC_000007.13:g.92141021C>A
  • NG_008341.1:g.21825G>T
  • NM_000466.2:c.1360-4G>T
Links:
dbSNP: rs199716270
NCBI 1000 Genomes Browser:
rs199716270
Molecular consequence:
  • NM_000466.3:c.1360-4G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282677.2:c.1360-4G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282678.2:c.736-4G>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003551394Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Sep 12, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003551394.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Oct 8, 2024