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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 20, 2024
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:
RCV003465357.2

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:
Adult hypophosphatasia
Identifiers:
MedGen: C0268413; Orphanet: 436; OMIM: 146300

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004194407Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Jan 20, 2024)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Baylor Genetics, SCV004194407.2

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

Last Updated: Jun 17, 2024