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NM_002500.5(NEUROD1):c.590C>A (p.Pro197His) AND Hypoinsulinemia

Germline classification:
Uncertain significance (1 submission)
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:
RCV002226674.2

Allele description [Variation Report for NM_002500.5(NEUROD1):c.590C>A (p.Pro197His)]

NM_002500.5(NEUROD1):c.590C>A (p.Pro197His)

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.590C>A (p.Pro197His)
HGVS:
  • NC_000002.12:g.181678271G>T
  • NG_011820.3:g.7247C>A
  • NM_002500.5:c.590C>AMANE SELECT
  • NP_002491.2:p.Pro197His
  • NP_002491.3:p.Pro197His
  • LRG_1119t1:c.590C>A
  • LRG_1119:g.7247C>A
  • LRG_1119p1:p.Pro197His
  • NC_000002.11:g.182542998G>T
  • NG_011820.2:g.7394C>A
  • NM_002500.3:c.590C>A
  • NM_002500.4:c.590C>A
  • Q13562:p.Pro197His
Protein change:
P197H
Links:
UniProtKB: Q13562#VAR_031260; dbSNP: rs8192556
NCBI 1000 Genomes Browser:
rs8192556
Molecular consequence:
  • NM_002500.5:c.590C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypoinsulinemia
Identifiers:
MedGen: C2748055; Human Phenotype Ontology: HP:0040216

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002505501Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic
criteria provided, single submitter

(K&H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria)		Uncertain significancesomaticresearch

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

NEUROD polymorphism Ala45Thr is associated with Type 1 diabetes mellitus in Czech children.

Cinek O, Drevínek P, Sumník Z, Bendlová B, Sedláková P, Kolousková S, Snajderová M, Vavrinec J.

Diabetes Res Clin Pract. 2003 Apr;60(1):49-56.

PubMed [citation]
PMID:
12639765

A preliminary study to evaluate the strategy of combining clinical criteria and next generation sequencing (NGS) for the identification of monogenic diabetes among multi-ethnic Asians.

Ang SF, Lim SC, Tan CSh, Fong JC, Kon WY, Lian JX, Subramanium T, Sum CF.

Diabetes Res Clin Pract. 2016 Sep;119:13-22. doi: 10.1016/j.diabres.2016.06.008. Epub 2016 Jul 1.

PubMed [citation]
PMID:
27420379

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV002505501.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedresearch PubMed (2)

Description

The role of NEUROD1 gene is known to be associated with neonatal onset diabetes due to pancreatic aplasia, leading to insulin dependence. It is associated with extra pancreatic manifestation of neurological impairment. However, no sufficient evidence is found to ascertain the role of rs8192556 variant in Diabetes Mellitus yet.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 10, 2024