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NM_000939.4(POMC):c.477_478dup (p.Tyr160fs) AND POMC-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 29, 2024
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:
RCV004736542.1

Allele description [Variation Report for NM_000939.4(POMC):c.477_478dup (p.Tyr160fs)]

NM_000939.4(POMC):c.477_478dup (p.Tyr160fs)

Gene:
POMC:proopiomelanocortin [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_000939.4(POMC):c.477_478dup (p.Tyr160fs)
HGVS:
  • NC_000002.12:g.25161407AC[3]
  • NG_008997.1:g.12281GT[3]
  • NM_000939.4:c.477_478dupMANE SELECT
  • NM_001035256.3:c.477_478dup
  • NM_001319204.2:c.477_478dup
  • NM_001319205.2:c.477_478dup
  • NP_000930.1:p.Tyr160fs
  • NP_001030333.1:p.Tyr160fs
  • NP_001306133.1:p.Tyr160fs
  • NP_001306134.1:p.Tyr160fs
  • NC_000002.11:g.25384276AC[3]
  • NM_000939.3:c.477_478dupGT
Protein change:
Y160fs
Molecular consequence:
  • NM_000939.4:c.477_478dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001035256.3:c.477_478dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001319204.2:c.477_478dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001319205.2:c.477_478dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
POMC-related disorder
Synonyms:
POMC-Related Disorders; POMC-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005342120PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Mar 29, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005342120.1

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

Description

The POMC c.477_478dupGT variant is predicted to result in a frameshift and premature protein termination (p.Tyr160Cysfs*22). This variant is found within the terminal exon of POMC. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Oct 13, 2024