NM_000939.4(POMC):c.158A>G (p.Asp53Gly) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 29, 2021
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:: RCV002467762.1

Allele description [Variation Report for NM_000939.4(POMC):c.158A>G (p.Asp53Gly)]

NM_000939.4(POMC):c.158A>G (p.Asp53Gly)

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.158A>G (p.Asp53Gly)

HGVS:

NC_000002.12:g.25161727T>C
NG_008997.1:g.11964A>G
NM_000939.4:c.158A>GMANE SELECT
NM_001035256.3:c.158A>G
NM_001319204.2:c.158A>G
NM_001319205.2:c.158A>G
NP_000930.1:p.Asp53Gly
NP_001030333.1:p.Asp53Gly
NP_001030333.1:p.Asp53Gly
NP_001306133.1:p.Asp53Gly
NP_001306134.1:p.Asp53Gly
NC_000002.11:g.25384596T>C
NM_000939.3:c.158A>G
NM_001035256.1:c.158A>G
NM_001035256.2:c.158A>G

Protein change:

D53G

Links:

dbSNP: rs28932470

NCBI 1000 Genomes Browser:

rs28932470

Molecular consequence:

NM_000939.4:c.158A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001035256.3:c.158A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001319204.2:c.158A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001319205.2:c.158A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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

Name:: Obesity
Synonyms:: Obesity disorder
Identifiers:: MONDO: MONDO:0011122; MeSH: D009765; MedGen: C0028754; Orphanet: 71529; Human Phenotype Ontology: HP:0001513

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002764426	New York Genome Center	criteria provided, single submitter (NYGC Assertion Criteria 2020)	Uncertain significance (Oct 29, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002764426

New York Genome Center

criteria provided, single submitter

(NYGC Assertion Criteria 2020)

Uncertain significance
(Oct 29, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	2	not provided	not provided	2	not provided	clinical testing

Details of each submission

From New York Genome Center, SCV002764426.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided
2	not provided	1	not provided	not provided	clinical testing	not provided

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

Last Updated: Oct 13, 2024

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