NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) AND Monogenic diabetes

Clinical significance:Likely benign (Last evaluated: Nov 10, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000445498.3

Allele description [Variation Report for NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile)]

NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile)

Gene:
ALMS1:ALMS1 centrosome and basal body associated protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.1
Genomic location:
Preferred name:
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile)
HGVS:
  • NC_000002.12:g.73451515C>T
  • NG_011690.1:g.70763C>T
  • NM_001378454.1:c.4988C>TMANE SELECT
  • NM_015120.4:c.4991C>T
  • NP_001365383.1:p.Thr1663Ile
  • NP_055935.4:p.Thr1664Ile
  • LRG_741t1:c.4991C>T
  • LRG_741:g.70763C>T
  • LRG_741p1:p.Thr1664Ile
  • NC_000002.11:g.73678642C>T
  • p.Thr1662Ile
Protein change:
T1663I
Links:
dbSNP: rs188807564
NCBI 1000 Genomes Browser:
rs188807564
Molecular consequence:
  • NM_001378454.1:c.4988C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015120.4:c.4991C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000536972Personalized Diabetes Medicine Program,University of Maryland School of Medicinecriteria provided, single submitter
Likely benign
(Nov 10, 2017)
unknownresearch

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

type2diabetesgenetics.org

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown3not 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, SCV000536972.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedresearch PubMed (1)

Description

ACMG criteria: BP4 (9 predictors), BS2 (33 cases and 12 controls in type2diabetesgenetics.org and one homozygous in ExAC), BP1 (missense in gene with truncating cause disease)=likely benign

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided3not providednot providednot provided

Last Updated: Oct 30, 2021

Support Center