NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer) AND Heimler syndrome 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 20, 2023
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:: RCV003473556.1

Allele description [Variation Report for NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer)]

NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer)

Genes:

GATAD1:GATA zinc finger domain containing 1 [Gene - OMIM - HGNC]
PEX1:peroxisomal biogenesis factor 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q21.2

Genomic location:

Preferred name:

NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer)

HGVS:

NC_000007.14:g.92491381_92491384del
NG_008341.2:g.42151_42154del
NM_000466.3:c.3329_3332delMANE SELECT
NM_001282677.2:c.3158_3161del
NM_001282678.2:c.2705_2708del
NP_000457.1:p.Val1109_Ser1110insTer
NP_001269606.1:p.Val1052_Ser1053insTer
NP_001269607.1:p.Val901_Ser902insTer
NC_000007.13:g.92120692_92120695del
NC_000007.13:g.92120695_92120698del
NG_008341.1:g.42151_42154del
NM_000466.2:c.3329_3332delCTTT

Links:

dbSNP: rs1585214453

NCBI 1000 Genomes Browser:

rs1585214453

Molecular consequence:

NM_000466.3:c.3329_3332del - nonsense - [Sequence Ontology: SO:0001587]
NM_001282677.2:c.3158_3161del - nonsense - [Sequence Ontology: SO:0001587]
NM_001282678.2:c.2705_2708del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Heimler syndrome 1 (HMLR1)
Synonyms:: PEROXISOME BIOGENESIS DISORDER 1C
Identifiers:: MedGen: C4551980; Orphanet: 3220; OMIM: 234580

Recent activity

Clear Turn Off Turn On

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
SCV004203311	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 20, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004203311

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 20, 2023)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	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 Baylor Genetics, SCV004203311.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine