NM_000466.3(PEX1):c.2331C>A (p.Gly777=) AND not provided

Clinical significance:Benign (Last evaluated: Jun 13, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000676106.2

Allele description [Variation Report for NM_000466.3(PEX1):c.2331C>A (p.Gly777=)]

NM_000466.3(PEX1):c.2331C>A (p.Gly777=)

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.2331C>A (p.Gly777=)
HGVS:
  • NC_000007.14:g.92501975G>T
  • NG_008341.1:g.31557C>A
  • NG_008341.2:g.31557C>A
  • NM_000466.3:c.2331C>AMANE SELECT
  • NM_001282677.2:c.2160C>A
  • NM_001282678.2:c.1707C>A
  • NP_000457.1:p.Gly777=
  • NP_001269606.1:p.Gly720=
  • NP_001269607.1:p.Gly569=
  • NC_000007.13:g.92131289G>T
  • NM_000466.2:c.2331C>A
  • NP_000457.1:p.(=)
  • NP_000457.1:p.(=)
  • p.Gly777Gly
Links:
dbSNP: rs10278857
NCBI 1000 Genomes Browser:
rs10278857
Molecular consequence:
  • NM_000466.3:c.2331C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001282677.2:c.2160C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001282678.2:c.1707C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000801849Mayo Clinic Laboratories, Mayo Clinicno assertion criteria providedBenign
(Oct 21, 2015)
unknownclinical testing

SCV000968182GeneDxcriteria provided, single submitter
Benign
(Jun 13, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000801849.1

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

From GeneDx, SCV000968182.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Sep 26, 2021

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