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NM_005912.3(MC4R):c.436G>A (p.Asp146Asn) AND BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 24, 2023
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:
RCV003444480.1

Allele description [Variation Report for NM_005912.3(MC4R):c.436G>A (p.Asp146Asn)]

NM_005912.3(MC4R):c.436G>A (p.Asp146Asn)

Gene:
MC4R:melanocortin 4 receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q21.32
Genomic location:
Preferred name:
NM_005912.3(MC4R):c.436G>A (p.Asp146Asn)
HGVS:
  • NC_000018.10:g.60371914C>T
  • NG_016441.1:g.5855G>A
  • NM_005912.3:c.436G>AMANE SELECT
  • NP_005903.2:p.Asp146Asn
  • LRG_1346t1:c.436G>A
  • LRG_1346:g.5855G>A
  • LRG_1346p1:p.Asp146Asn
  • NC_000018.9:g.58039147C>T
Protein change:
D146N
Molecular consequence:
  • NM_005912.3:c.436G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 (BMIQ20)
Synonyms:
MELANOCORTIN 4 RECEPTOR DEFICIENCY; MC4R DEFICIENCY
Identifiers:
MedGen: C4759928; OMIM: 618406

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004171587Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
no assertion criteria provided
Uncertain significance
(Nov 24, 2023) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Zotz-Klimas Genetics Lab, MVZ Zotz Klimas, SCV004171587.1

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

Last Updated: Dec 9, 2023