NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys) AND not specified

Germline classification:: Benign (2 submissions)
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:: RCV000242569.7

Allele description [Variation Report for NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys)]

NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys)

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.1521G>C (p.Trp507Cys)

HGVS:

NC_000007.14:g.92511010C>G
NG_008341.2:g.22522G>C
NM_000466.3:c.1521G>CMANE SELECT
NM_001282677.2:c.1521G>C
NM_001282678.2:c.897G>C
NP_000457.1:p.Trp507Cys
NP_001269606.1:p.Trp507Cys
NP_001269607.1:p.Trp299Cys
NC_000007.13:g.92140324C>G
NG_008341.1:g.22522G>C
NM_000466.2:c.1521G>C

Protein change:

W299C

Links:

dbSNP: rs112822975

NCBI 1000 Genomes Browser:

rs112822975

Molecular consequence:

NM_000466.3:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001282677.2:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001282678.2:c.897G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

cytochrome oxidase subunit 1, partial (mitochondrion) [Diapriidae sp. BIOUG10481...
cytochrome oxidase subunit 1, partial (mitochondrion) [Diapriidae sp. BIOUG10481-A07]
gi|1503021928|gb|AYP47724.1|

Protein
Haplopappus coquimbensis (0)
Nucleotide
hypothetical protein NDAI_0D03760 [Naumovozyma dairenensis CBS 421]
hypothetical protein NDAI_0D03760 [Naumovozyma dairenensis CBS 421]
gi|365986202|ref|XP_003669933.1|

Protein
hypothetical protein NDAI_0D04160 [Naumovozyma dairenensis CBS 421]
hypothetical protein NDAI_0D04160 [Naumovozyma dairenensis CBS 421]
gi|365986282|ref|XP_003669973.1|

Protein
hypothetical protein NDAI_0D02460 [Naumovozyma dairenensis CBS 421]
hypothetical protein NDAI_0D02460 [Naumovozyma dairenensis CBS 421]
gi|365985942|ref|XP_003669803.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000304417	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001921720	Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000304417

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign

germline

clinical testing

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

SCV001921720

Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Benign

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 PreventionGenetics, part of Exact Sciences, SCV000304417.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001921720.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine