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NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro) AND Permanent neonatal diabetes mellitus

Germline classification:
Benign (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000333285.4

Allele description [Variation Report for NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro)]

NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro)

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.787T>C (p.Ser263Pro)
HGVS:
  • NC_000010.11:g.23193706T>C
  • NG_009798.1:g.6176T>C
  • NM_178161.3:c.787T>CMANE SELECT
  • NP_835455.1:p.Ser263Pro
  • NC_000010.10:g.23482635T>C
  • NM_178161.2:c.787T>C
  • Q7RTS3:p.Ser263Pro
Protein change:
S263P
Links:
UniProtKB: Q7RTS3#VAR_049548; dbSNP: rs7918487
NCBI 1000 Genomes Browser:
rs7918487
Molecular consequence:
  • NM_178161.3:c.787T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Permanent neonatal diabetes mellitus (PNDM)
Synonyms:
Permanent diabetes mellitus of infancy
Identifiers:
MONDO: MONDO:0100164; MedGen: C1833104; OMIM: PS606176

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001138010Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Benign
(May 28, 2019) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Mendelics, SCV001138010.1

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

Last Updated: Feb 28, 2024