NM_000939.4(POMC):c.151A>T (p.Lys51Ter) AND Obesity due to pro-opiomelanocortin deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 1, 2003
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:: RCV000014286.27

Allele description [Variation Report for NM_000939.4(POMC):c.151A>T (p.Lys51Ter)]

NM_000939.4(POMC):c.151A>T (p.Lys51Ter)

Genes:

LOC129933280:ATAC-STARR-seq lymphoblastoid silent region 11244 [Gene]
POMC:proopiomelanocortin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

Preferred name:

NM_000939.4(POMC):c.151A>T (p.Lys51Ter)

Other names:

K25*

HGVS:

NC_000002.12:g.25161734T>A
NG_008997.1:g.11957A>T
NM_000939.4:c.151A>TMANE SELECT
NM_001035256.3:c.151A>T
NM_001319204.2:c.151A>T
NM_001319205.2:c.151A>T
NP_000930.1:p.Lys51Ter
NP_001030333.1:p.Lys51Ter
NP_001306133.1:p.Lys51Ter
NP_001306134.1:p.Lys51Ter
NC_000002.11:g.25384603T>A

Protein change:

K51*; LYS25TER

Links:

OMIM: 176830.0006; dbSNP: rs121918112

NCBI 1000 Genomes Browser:

rs121918112

Molecular consequence:

NM_000939.4:c.151A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001035256.3:c.151A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001319204.2:c.151A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001319205.2:c.151A>T - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000034535	OMIM	no assertion criteria provided	Pathogenic (Oct 1, 2003)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000034535

OMIM

no assertion criteria provided

Pathogenic
(Oct 1, 2003)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Obesity due to proopiomelanocortin deficiency: three new cases and treatment trials with thyroid hormone and ACTH4-10.

Krude H, Biebermann H, Schnabel D, Tansek MZ, Theunissen P, Mullis PE, Grüters A.

J Clin Endocrinol Metab. 2003 Oct;88(10):4633-40.

PubMed [citation]

PMID:: 14557433

Details of each submission

From OMIM, SCV000034535.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a Slovenian boy with early-onset obesity, adrenal insufficiency, and red hair (OBAIRH; 609734), Krude et al. (2003) identified compound heterozygosity for mutations in exon 3 of the POMC gene: a 6851A-T transversion, resulting in a lys25-to-ter (L25X) substitution, and a 1-bp deletion at nucleotide 6996 (176830.0007). His father and mother were heterozygous for the mutations, respectively.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 14, 2023

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