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NM_178161.3(PTF1A):c.571C>A (p.Pro191Thr) AND Pancreatic agenesis 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 25, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000984966.4

Allele description [Variation Report for NM_178161.3(PTF1A):c.571C>A (p.Pro191Thr)]

NM_178161.3(PTF1A):c.571C>A (p.Pro191Thr)

Gene:
PTF1A:pancreas associated transcription factor 1a [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10p12.2
Genomic location:
Preferred name:
NM_178161.3(PTF1A):c.571C>A (p.Pro191Thr)
HGVS:
  • NC_000010.11:g.23193101C>A
  • NG_009798.1:g.5571C>A
  • NM_178161.3:c.571C>AMANE SELECT
  • NP_835455.1:p.Pro191Thr
  • NC_000010.10:g.23482030C>A
  • NM_178161.2:c.571C>A
Protein change:
P191T
Links:
dbSNP: rs1588563037
NCBI 1000 Genomes Browser:
rs1588563037
Molecular consequence:
  • NM_178161.3:c.571C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pancreatic agenesis 2 (PAGEN2)
Synonyms:
PANCREATIC HYPOPLASIA, CONGENITAL 2
Identifiers:
MONDO: MONDO:0014406; MedGen: C4014737; Orphanet: 2805; OMIM: 615935

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001132886Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
no assertion criteria provided
Pathogenic
(Aug 25, 2019) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City, SCV001132886.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 16, 2025