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NM_004643.4(PABPN1):c.3GGC[12] (p.Ala11_Gly12insAlaAlaAlaAlaAla) AND Oculopharyngeal muscular dystrophy

Germline classification:
Pathogenic (1 submission)
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:
RCV001784791.5

Allele description [Variation Report for NM_004643.4(PABPN1):c.3GGC[12] (p.Ala11_Gly12insAlaAlaAlaAlaAla)]

NM_004643.4(PABPN1):c.3GGC[12] (p.Ala11_Gly12insAlaAlaAlaAlaAla)

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_004643.4(PABPN1):c.3GGC[12] (p.Ala11_Gly12insAlaAlaAlaAlaAla)
HGVS:
  • NC_000014.9:g.23321472GGC[12]
  • NG_008239.1:g.6285GGC[12]
  • NG_128768.1:g.363GGC[12]
  • NM_001199864.3:c.433-709GGC[12]
  • NM_001360551.3:c.3GGC[12]
  • NM_001387340.1:c.550-709GGC[12]
  • NM_001387341.1:c.529-709GGC[12]
  • NM_001387342.1:c.529-709GGC[12]
  • NM_001387343.1:c.529-709GGC[12]
  • NM_001387344.1:c.529-709GGC[12]
  • NM_001387345.1:c.433-709GGC[12]
  • NM_001387346.1:c.433-709GGC[12]
  • NM_004643.4:c.3GGC[12]MANE SELECT
  • NP_001347480.1:p.Ala11_Gly12insAlaAlaAlaAlaAla
  • NP_004634.1:p.Ala11_Gly12insAlaAlaAlaAlaAla
  • NC_000014.8:g.23790681GGC[12]
  • NM_004643.4:c.2_3insGGCGGCGGCGGCGGCMANE SELECT
Links:
dbSNP: rs193922941
NCBI 1000 Genomes Browser:
rs193922941
Molecular consequence:
  • NM_001360551.3:c.3GGC[12] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_004643.4:c.3GGC[12] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001360551.3:c.3GGC[12] - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_004643.4:c.3GGC[12] - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001199864.3:c.433-709GGC[12] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387340.1:c.550-709GGC[12] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387341.1:c.529-709GGC[12] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387342.1:c.529-709GGC[12] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387343.1:c.529-709GGC[12] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387344.1:c.529-709GGC[12] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387345.1:c.433-709GGC[12] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387346.1:c.433-709GGC[12] - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002053802Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicinheritedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedclinical 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 Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India, SCV002053802.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024