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NM_000478.6(ALPL):c.550C>T (p.Arg184Trp) AND Osteogenesis imperfecta

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 4, 2020
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:
RCV002279446.3

Allele description [Variation Report for NM_000478.6(ALPL):c.550C>T (p.Arg184Trp)]

NM_000478.6(ALPL):c.550C>T (p.Arg184Trp)

Gene:
ALPL:alkaline phosphatase, biomineralization associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.12
Genomic location:
Preferred name:
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp)
Other names:
p.Arg184Trp
HGVS:
  • NC_000001.11:g.21564118C>T
  • NG_008940.1:g.59754C>T
  • NM_000478.6:c.550C>TMANE SELECT
  • NM_001127501.4:c.385C>T
  • NM_001177520.3:c.319C>T
  • NM_001369803.2:c.550C>T
  • NM_001369804.2:c.550C>T
  • NM_001369805.2:c.550C>T
  • NP_000469.3:p.Arg184Trp
  • NP_001120973.2:p.Arg129Trp
  • NP_001170991.1:p.Arg107Trp
  • NP_001356732.1:p.Arg184Trp
  • NP_001356733.1:p.Arg184Trp
  • NP_001356734.1:p.Arg184Trp
  • NC_000001.10:g.21890611C>T
  • NM_000478.4:c.550C>T
  • NM_000478.5:c.550C>T
Protein change:
R107W
Links:
dbSNP: rs763159520
NCBI 1000 Genomes Browser:
rs763159520
Molecular consequence:
  • NM_000478.6:c.550C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127501.4:c.385C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177520.3:c.319C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369803.2:c.550C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369804.2:c.550C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369805.2:c.550C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Osteogenesis imperfecta (OI)
Identifiers:
MONDO: MONDO:0019019; MeSH: D010013; MedGen: C0029434; OMIM: PS166200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002564794Genome Diagnostics Laboratory, The Hospital for Sick Children
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Sep 4, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 Genome Diagnostics Laboratory, The Hospital for Sick Children, SCV002564794.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 19, 2024