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NM_004643.4(PABPN1):c.238C>A (p.Pro80Thr) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 13, 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:
RCV004497694.1

Allele description [Variation Report for NM_004643.4(PABPN1):c.238C>A (p.Pro80Thr)]

NM_004643.4(PABPN1):c.238C>A (p.Pro80Thr)

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.238C>A (p.Pro80Thr)
HGVS:
  • NC_000014.9:g.23321707C>A
  • NG_008239.1:g.6520C>A
  • NG_128768.1:g.598C>A
  • NM_001199864.3:c.433-474C>A
  • NM_001360551.3:c.238C>A
  • NM_001387340.1:c.550-474C>A
  • NM_001387341.1:c.529-474C>A
  • NM_001387342.1:c.529-474C>A
  • NM_001387343.1:c.529-474C>A
  • NM_001387344.1:c.529-474C>A
  • NM_001387345.1:c.433-474C>A
  • NM_001387346.1:c.433-474C>A
  • NM_004643.4:c.238C>AMANE SELECT
  • NP_001347480.1:p.Pro80Thr
  • NP_004634.1:p.Pro80Thr
  • NC_000014.8:g.23790916C>A
  • NM_004643.3:c.238C>A
Protein change:
P80T
Molecular consequence:
  • NM_001199864.3:c.433-474C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387340.1:c.550-474C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387341.1:c.529-474C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387342.1:c.529-474C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387343.1:c.529-474C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387344.1:c.529-474C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387345.1:c.433-474C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387346.1:c.433-474C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001360551.3:c.238C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004643.4:c.238C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004999644Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 13, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004999644.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.238C>A (p.P80T) alteration is located in exon 1 (coding exon 1) of the PABPN1 gene. This alteration results from a C to A substitution at nucleotide position 238, causing the proline (P) at amino acid position 80 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024