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NM_000466.3(PEX1):c.2200G>A (p.Val734Ile) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 18, 2021
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:
RCV004034895.1

Allele description [Variation Report for NM_000466.3(PEX1):c.2200G>A (p.Val734Ile)]

NM_000466.3(PEX1):c.2200G>A (p.Val734Ile)

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.2200G>A (p.Val734Ile)
Other names:
p.Val734Ile
HGVS:
  • NC_000007.14:g.92503067C>T
  • NG_008341.2:g.30465G>A
  • NM_000466.3:c.2200G>AMANE SELECT
  • NM_001282677.2:c.2029G>A
  • NM_001282678.2:c.1576G>A
  • NP_000457.1:p.Val734Ile
  • NP_001269606.1:p.Val677Ile
  • NP_001269607.1:p.Val526Ile
  • NC_000007.13:g.92132381C>T
  • NC_000007.13:g.92132381C>T
  • NG_008341.1:g.30465G>A
  • NM_000466.2:c.2200G>A
Protein change:
V526I
Links:
dbSNP: rs141510219
NCBI 1000 Genomes Browser:
rs141510219
Molecular consequence:
  • NM_000466.3:c.2200G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282677.2:c.2029G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282678.2:c.1576G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV005003549Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Aug 18, 2021) 		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, SCV005003549.1

#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: Sep 29, 2024