NM_004643.4(PABPN1):c.35G>C (p.Gly12Ala) AND Oculopharyngeal muscular dystrophy

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jul 22, 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:: RCV000007793.7

Allele description [Variation Report for NM_004643.4(PABPN1):c.35G>C (p.Gly12Ala)]

NM_004643.4(PABPN1):c.35G>C (p.Gly12Ala)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_004643.4(PABPN1):c.35G>C (p.Gly12Ala)

HGVS:

NC_000014.9:g.23321504G>C
NG_008239.1:g.6317G>C
NM_001199864.3:c.433-677G>C
NM_001360551.3:c.35G>C
NM_001387340.1:c.550-677G>C
NM_001387341.1:c.529-677G>C
NM_001387342.1:c.529-677G>C
NM_001387343.1:c.529-677G>C
NM_001387344.1:c.529-677G>C
NM_001387345.1:c.433-677G>C
NM_001387346.1:c.433-677G>C
NM_004643.3:c.35G>C
NM_004643.4:c.35G>CMANE SELECT
NP_001347480.1:p.Gly12Ala
NP_004634.1:p.Gly12Ala
NC_000014.8:g.23790713G>C

Protein change:

G12A; GLY12ALA

Links:

OMIM: 602279.0003; dbSNP: rs104894466

NCBI 1000 Genomes Browser:

rs104894466

Molecular consequence:

NM_001199864.3:c.433-677G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001387340.1:c.550-677G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001387341.1:c.529-677G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001387342.1:c.529-677G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001387343.1:c.529-677G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001387344.1:c.529-677G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001387345.1:c.433-677G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001387346.1:c.433-677G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001360551.3:c.35G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004643.4:c.35G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Oculopharyngeal muscular dystrophy
Identifiers:: MONDO: MONDO:0008116; MedGen: C0270952; Orphanet: 270; OMIM: PS164300

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000027994	OMIM	no assertion criteria provided	Pathogenic (May 1, 2006)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV003816581	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 22, 2021)	germline	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

SCV000027994

OMIM

no assertion criteria provided

Pathogenic
(May 1, 2006)

germline

literature only

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

SCV003816581

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 22, 2021)

germline

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	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation.

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

J Med Genet. 2006 May;43(5):e23.

PubMed [citation]

PMID:: 16648376
PMCID:: PMC2564528

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 OMIM, SCV000027994.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a woman with oculopharyngeal muscular dystrophy (OPMD1; 164300), Robinson et al. (2006) identified a heterozygous c.35G-C transversion in exon 1 of the PABPN1 gene, resulting in a gly12-to-ala (G12A) substitution. The G12A change occurs immediately 3-prime to the normal 10 alanine codon repeat sequence and generates a contiguous sequence of 13 alanine codons, which is causative of disease in the common triplet repeat expansion mutation (602279.0001). The woman had disease onset at age 61 years and reported 5 affected family members.

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

From Revvity Omics, Revvity, SCV003816581.2

#	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

Last Updated: Mar 16, 2024

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