NM_001127207.2(SMARCAL1):c.723C>A (p.Cys241Ter) AND Schimke immuno-osseous dysplasia

Clinical significance:Pathogenic (Last evaluated: Jan 1, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001196355.1

Allele description [Variation Report for NM_001127207.2(SMARCAL1):c.723C>A (p.Cys241Ter)]

NM_001127207.2(SMARCAL1):c.723C>A (p.Cys241Ter)

Gene:
SMARCAL1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001127207.2(SMARCAL1):c.723C>A (p.Cys241Ter)
HGVS:
  • NC_000002.12:g.216415427C>A
  • NG_009771.1:g.8014C>A
  • NM_001127207.2:c.723C>A
  • NM_014140.3:c.723C>A
  • NP_001120679.1:p.Cys241Ter
  • NP_054859.2:p.Cys241Ter
  • LRG_108t1:c.723C>A
  • LRG_108:g.8014C>A
  • LRG_108p1:p.Cys241Ter
  • NC_000002.11:g.217280150C>A
  • NM_001127207.1:c.723C>A
Protein change:
C241*
Links:
dbSNP: rs748106387
NCBI 1000 Genomes Browser:
rs748106387
Molecular consequence:
  • NM_001127207.2:c.723C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014140.3:c.723C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Schimke immuno-osseous dysplasia (SIOD)
Synonyms:
Spondyloepiphyseal dysplasia nephrotic syndrome; Schimke syndrome; Schimke immunoosseous dysplasia
Identifiers:
MONDO: MONDO:0009458; MedGen: C0877024; Orphanet: 1830; OMIM: 242900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001366956Centre for Mendelian Genomics,University Medical Centre Ljubljanacriteria provided, single submitter
Pathogenic
(Jan 1, 2016)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

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 Centre for Mendelian Genomics,University Medical Centre Ljubljana, SCV001366956.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was classified as: Pathogenic.

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

Last Updated: Oct 7, 2021

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