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NM_000939.4(POMC):c.416dup (p.Tyr139Ter) AND Obesity due to pro-opiomelanocortin deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 9, 2018
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:
RCV000825007.2

Allele description [Variation Report for NM_000939.4(POMC):c.416dup (p.Tyr139Ter)]

NM_000939.4(POMC):c.416dup (p.Tyr139Ter)

Gene:
POMC:proopiomelanocortin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_000939.4(POMC):c.416dup (p.Tyr139Ter)
HGVS:
  • NC_000002.12:g.25161469dup
  • NG_008997.1:g.12222dup
  • NM_000939.4:c.416dupMANE SELECT
  • NM_001035256.3:c.416dup
  • NM_001319204.2:c.416dup
  • NM_001319205.2:c.416dup
  • NP_000930.1:p.Tyr139Ter
  • NP_001030333.1:p.Tyr139Ter
  • NP_001306133.1:p.Tyr139Ter
  • NP_001306134.1:p.Tyr139Ter
  • NC_000002.11:g.25384338dup
  • NM_000939.2:c.416_417insA
Protein change:
Y139*
Links:
dbSNP: rs1573250294
NCBI 1000 Genomes Browser:
rs1573250294
Molecular consequence:
  • NM_000939.4:c.416dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001035256.3:c.416dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001319204.2:c.416dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001319205.2:c.416dup - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Obesity due to pro-opiomelanocortin deficiency
Synonyms:
Proopiomelanocortin deficiency; Obesity, adrenal insufficiency, and red hair due to POMC deficiency; OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR
Identifiers:
MONDO: MONDO:0012335; MedGen: C1857854; Orphanet: 71526; OMIM: 609734

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000966199Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 9, 2018) 		paternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyesnot 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 Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV000966199.1

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

Last Updated: Jun 23, 2024