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NM_002500.5(NEUROD1):c.750C>A (p.Ser250Arg) AND Monogenic diabetes

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 14, 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:
RCV000664083.3

Allele description [Variation Report for NM_002500.5(NEUROD1):c.750C>A (p.Ser250Arg)]

NM_002500.5(NEUROD1):c.750C>A (p.Ser250Arg)

Gene:
NEUROD1:neuronal differentiation 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.3
Genomic location:
Preferred name:
NM_002500.5(NEUROD1):c.750C>A (p.Ser250Arg)
HGVS:
  • NC_000002.12:g.181678111G>T
  • NG_011820.3:g.7407C>A
  • NM_002500.5:c.750C>AMANE SELECT
  • NP_002491.2:p.Ser250Arg
  • NP_002491.3:p.Ser250Arg
  • LRG_1119t1:c.750C>A
  • LRG_1119:g.7407C>A
  • LRG_1119p1:p.Ser250Arg
  • NC_000002.11:g.182542838G>T
  • NG_011820.2:g.7554C>A
  • NM_002500.4:c.750C>A
Protein change:
S250R
Links:
dbSNP: rs201293992
NCBI 1000 Genomes Browser:
rs201293992
Molecular consequence:
  • NM_002500.5:c.750C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000787535Personalized Diabetes Medicine Program, University of Maryland School of Medicine - Personalized Diabetes Medicine Program
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 14, 2017) 		unknownresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot providednot providednot providedresearch

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, SCV000787535.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)

Description

ACMG Criteria:BP4 (9 predictors)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Feb 20, 2024