NM_005912.3(MC4R):c.983T>A (p.Leu328Ter) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 20, 2023
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:: RCV000712271.4

Allele description [Variation Report for NM_005912.3(MC4R):c.983T>A (p.Leu328Ter)]

NM_005912.3(MC4R):c.983T>A (p.Leu328Ter)

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.983T>A (p.Leu328Ter)

HGVS:

NC_000018.10:g.60371367A>T
NG_016441.1:g.6402T>A
NM_005912.3:c.983T>AMANE SELECT
NP_005903.2:p.Leu328Ter
LRG_1346t1:c.983T>A
LRG_1346:g.6402T>A
LRG_1346p1:p.Leu328Ter
NC_000018.9:g.58038600A>T
NM_005912.2:c.983T>A

Protein change:

L328*

Links:

dbSNP: rs751914635

NCBI 1000 Genomes Browser:

rs751914635

Molecular consequence:

NM_005912.3:c.983T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000842721	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Uncertain significance (Oct 20, 2023)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 29991773, 31589614, 32952152, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000842721

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Uncertain significance
(Oct 20, 2023)

unknown

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Genetic variants help define the role of the MC4R C-terminus in signaling and cell surface stability.

Moore BS, Mirshahi T.

Sci Rep. 2018 Jul 10;8(1):10397. doi: 10.1038/s41598-018-28758-3.

PubMed [citation]

PMID:: 29991773
PMCID:: PMC6039487

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A, Valero RA, Jimenez-Almazan J, Pardo PM, Fabiani M, Jiménez D, Simon C, Rodriguez JM.

PLoS Genet. 2019 Oct;15(10):e1008409. doi: 10.1371/journal.pgen.1008409.

PubMed [citation]

PMID:: 31589614
PMCID:: PMC6797235

See all PubMed Citations (4)

Details of each submission

From Athena Diagnostics, SCV000842721.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

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

Last Updated: May 19, 2024

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