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:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001441327	New York Genome Center - CSER-NYCKidSeq	criteria provided, single submitter (NYGC Assertion Criteria 2020)	Uncertain significance (May 24, 2019)	maternal	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001441327

New York Genome Center - CSER-NYCKidSeq

criteria provided, single submitter

(NYGC Assertion Criteria 2020)

Uncertain significance
(May 24, 2019)

maternal

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	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	maternal	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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