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NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg) AND Monogenic diabetes

Germline classification:
Benign (1 submission)
Last evaluated:
Feb 8, 2019
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:
RCV000445406.3

Allele description [Variation Report for NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg)]

NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg)

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.4154C>G (p.Thr1385Arg)
HGVS:
  • NC_000002.12:g.73450681C>G
  • NG_011690.1:g.69929C>G
  • NM_001378454.1:c.4154C>GMANE SELECT
  • NM_015120.4:c.4157C>G
  • NP_001365383.1:p.Thr1385Arg
  • NP_055935.4:p.Thr1386Arg
  • LRG_741t1:c.4157C>G
  • LRG_741:g.69929C>G
  • LRG_741p1:p.Thr1386Arg
  • NC_000002.11:g.73677808C>G
Protein change:
T1385R
Links:
dbSNP: rs115517108
NCBI 1000 Genomes Browser:
rs115517108
Molecular consequence:
  • NM_001378454.1:c.4154C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015120.4:c.4157C>G - 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
SCV000536968Personalized Diabetes Medicine Program, University of Maryland School of Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Feb 8, 2019) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown16not 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, SCV000536968.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided16not providednot providedresearch PubMed (1)

Description

ACMG criteria: BP4 (REVEL score 0.017 + 5 predictors, not using PP3/4 predictors), BA1 (5.7% in gnomAD African), BS2 (46 homozygotes in gnomAD), BP1 (most ALMS1 pathogenic variants are truncating)= benign

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided16not providednot providednot provided

Last Updated: Apr 7, 2025