NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser) AND Monogenic diabetes

Clinical significance:Benign (Last evaluated: Feb 15, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000445433.3

Allele description [Variation Report for NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser)]

NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser)

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.6553C>T (p.Pro2185Ser)
HGVS:
  • NC_000002.12:g.73453080C>T
  • NG_011690.1:g.72328C>T
  • NM_001378454.1:c.6553C>TMANE SELECT
  • NM_015120.4:c.6556C>T
  • NP_001365383.1:p.Pro2185Ser
  • NP_055935.4:p.Pro2186Ser
  • LRG_741t1:c.6556C>T
  • LRG_741:g.72328C>T
  • LRG_741p1:p.Pro2186Ser
  • NC_000002.11:g.73680207C>T
  • p.Pro2184Ser
Protein change:
P2185S
Links:
dbSNP: rs77555300
NCBI 1000 Genomes Browser:
rs77555300
Molecular consequence:
  • NM_001378454.1:c.6553C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015120.4:c.6556C>T - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000536980Personalized Diabetes Medicine Program,University of Maryland School of Medicinecriteria provided, single submitter
Benign
(Feb 15, 2019)
unknownresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown9not 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, SCV000536980.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided9not providednot providedresearch PubMed (1)

Description

ACMG criteria: BP1 (missense when truncating are ds causing), BA1 (3.4% MAF in gnomAD Africans), BS2 (18 homozygotes in gnomAD), BP4 (REVEL 0.028 + 8 predictors)= Benign (ALMS1 p.P2184S and p.K1810N are likely in LD)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided9not providednot providednot provided

Last Updated: Nov 27, 2021

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