NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup) AND Oculopharyngeal muscular dystrophy 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 22, 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:: RCV004017579.2

Allele description [Variation Report for NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup)]

NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup)

Genes:

BCL2L2-PABPN1:BCL2L2-PABPN1 readthrough [Gene - HGNC]
PABPN1:poly(A) binding protein nuclear 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup)

HGVS:

NC_000014.9:g.23321472GGC[10]
NG_008239.1:g.6285GGC[10]
NG_128768.1:g.363GGC[10]
NM_001199864.3:c.433-709GGC[10]
NM_001360551.3:c.3GGC[10]
NM_001387340.1:c.550-709GGC[10]
NM_001387341.1:c.529-709GGC[10]
NM_001387342.1:c.529-709GGC[10]
NM_001387343.1:c.529-709GGC[10]
NM_001387344.1:c.529-709GGC[10]
NM_001387345.1:c.433-709GGC[10]
NM_001387346.1:c.433-709GGC[10]
NM_004643.3:c.15_23dupGGCGGCGGC
NM_004643.4:c.3GGC[10]MANE SELECT
NP_001347480.1:p.Ala11_Gly12insAlaAlaAla
NP_004634.1:p.Ala11_Gly12insAlaAlaAla
NC_000014.8:g.23790680_23790681insGGCGGCGGC
NC_000014.8:g.23790681GGC[10]
NM_004643.3:c.15_23dup
NM_004643.3:c.15_23dupGGCGGCGGC
NM_004643.3:c.3GGC[10]
NM_004643.4:c.15_23dupMANE SELECT

Links:

dbSNP: rs193922941

NCBI 1000 Genomes Browser:

rs193922941

Molecular consequence:

NM_001360551.3:c.3GGC[10] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_004643.4:c.3GGC[10] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001360551.3:c.3GGC[10] - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_004643.4:c.3GGC[10] - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001199864.3:c.433-709GGC[10] - intron variant - [Sequence Ontology: SO:0001627]
NM_001387340.1:c.550-709GGC[10] - intron variant - [Sequence Ontology: SO:0001627]
NM_001387341.1:c.529-709GGC[10] - intron variant - [Sequence Ontology: SO:0001627]
NM_001387342.1:c.529-709GGC[10] - intron variant - [Sequence Ontology: SO:0001627]
NM_001387343.1:c.529-709GGC[10] - intron variant - [Sequence Ontology: SO:0001627]
NM_001387344.1:c.529-709GGC[10] - intron variant - [Sequence Ontology: SO:0001627]
NM_001387345.1:c.433-709GGC[10] - intron variant - [Sequence Ontology: SO:0001627]
NM_001387346.1:c.433-709GGC[10] - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Oculopharyngeal muscular dystrophy 1 (OPMD1)
Identifiers:: MONDO: MONDO:0958176; MedGen: CN376802; OMIM: 164300

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004847219	Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 22, 2023)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25741868, 15645184

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004847219

Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Aug 22, 2023)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	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

Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism.

Robinson DO, Hammans SR, Read SP, Sillibourne J.

Hum Genet. 2005 Mar;116(4):267-71. Epub 2005 Jan 12.

PubMed [citation]

PMID:: 15645184

Details of each submission

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV004847219.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

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

Last Updated: Nov 3, 2024

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