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NM_000939.4(POMC):c.599_604dup (p.Ala201_Gln202insArgAla) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 24, 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:
RCV001263288.1

Allele description [Variation Report for NM_000939.4(POMC):c.599_604dup (p.Ala201_Gln202insArgAla)]

NM_000939.4(POMC):c.599_604dup (p.Ala201_Gln202insArgAla)

Gene:
POMC:proopiomelanocortin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_000939.4(POMC):c.599_604dup (p.Ala201_Gln202insArgAla)
HGVS:
  • NC_000002.12:g.25161281_25161286dup
  • NG_008997.1:g.12405_12410dup
  • NM_000939.4:c.599_604dupMANE SELECT
  • NM_001035256.3:c.599_604dup
  • NM_001319204.2:c.599_604dup
  • NM_001319205.2:c.599_604dup
  • NP_000930.1:p.Ala201_Gln202insArgAla
  • NP_001030333.1:p.Ala201_Gln202insArgAla
  • NP_001306133.1:p.Ala201_Gln202insArgAla
  • NP_001306134.1:p.Ala201_Gln202insArgAla
  • NC_000002.11:g.25384149_25384150insGGGCCC
  • NC_000002.11:g.25384150_25384155dup
  • NM_001035256.1:c.599_604dup
  • NM_001035256.1:c.599_604dupGGGCCC
Links:
dbSNP: rs762710034
NCBI 1000 Genomes Browser:
rs762710034
Molecular consequence:
  • NM_000939.4:c.599_604dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001035256.3:c.599_604dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001319204.2:c.599_604dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001319205.2:c.599_604dup - inframe_insertion - [Sequence Ontology: SO:0001821]
Observations:
1

Condition(s)

Name:
Obesity
Synonyms:
Obesity disorder
Identifiers:
MONDO: MONDO:0011122; MeSH: D009765; MedGen: C0028754; Orphanet: 71529; Human Phenotype Ontology: HP:0001513
Name:
Abnormality of skin pigmentation
Identifiers:
MedGen: C1260926; Human Phenotype Ontology: HP:0001000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001441327New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(May 24, 2019) 		maternalclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV001441327.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024