NM_005912.3(MC4R):c.883T>C (p.Ser295Pro) AND Monogenic diabetes

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 10, 2017
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:: RCV000664152.3

Allele description [Variation Report for NM_005912.3(MC4R):c.883T>C (p.Ser295Pro)]

NM_005912.3(MC4R):c.883T>C (p.Ser295Pro)

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.883T>C (p.Ser295Pro)

HGVS:

NC_000018.10:g.60371467A>G
NG_016441.1:g.6302T>C
NM_005912.3:c.883T>CMANE SELECT
NP_005903.2:p.Ser295Pro
LRG_1346t1:c.883T>C
LRG_1346:g.6302T>C
LRG_1346p1:p.Ser295Pro
NC_000018.9:g.58038700A>G
NM_005912.2:c.883T>C

Protein change:

S295P

Links:

dbSNP: rs368264587

NCBI 1000 Genomes Browser:

rs368264587

Molecular consequence:

NM_005912.3:c.883T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Monogenic diabetes
Identifiers:: MONDO: MONDO:0015967; MedGen: C3888631

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000787604	Personalized Diabetes Medicine Program, University of Maryland School of Medicine - Personalized Diabetes Medicine Program	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 10, 2017)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000787604

Personalized Diabetes Medicine Program, University of Maryland School of Medicine - Personalized Diabetes Medicine Program

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 10, 2017)

unknown

research

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	unknown	unknown	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Personalized Diabetes Medicine Program, University of Maryland School of Medicine - Personalized Diabetes Medicine Program, SCV000787604.2

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

Description

ACMG Criteria:PP3 (10 predictors)

#	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		1	not provided	not provided	not provided

Last Updated: Jan 7, 2023

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