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NM_000478.6(ALPL):c.880G>T (p.Asp294Tyr) AND Infantile hypophosphatasia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 2, 2017
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:
RCV000668470.1

Allele description [Variation Report for NM_000478.6(ALPL):c.880G>T (p.Asp294Tyr)]

NM_000478.6(ALPL):c.880G>T (p.Asp294Tyr)

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.880G>T (p.Asp294Tyr)
HGVS:
  • NC_000001.11:g.21573682G>T
  • NG_008940.1:g.69318G>T
  • NM_000478.6:c.880G>TMANE SELECT
  • NM_001127501.4:c.715G>T
  • NM_001177520.3:c.649G>T
  • NM_001369803.2:c.880G>T
  • NM_001369804.2:c.880G>T
  • NM_001369805.2:c.880G>T
  • NP_000469.3:p.Asp294Tyr
  • NP_001120973.2:p.Asp239Tyr
  • NP_001170991.1:p.Asp217Tyr
  • NP_001356732.1:p.Asp294Tyr
  • NP_001356733.1:p.Asp294Tyr
  • NP_001356734.1:p.Asp294Tyr
  • NC_000001.10:g.21900175G>T
  • NM_000478.4:c.880G>T
Protein change:
D217Y
Links:
dbSNP: rs1553414079
NCBI 1000 Genomes Browser:
rs1553414079
Molecular consequence:
  • NM_000478.6:c.880G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127501.4:c.715G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177520.3:c.649G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369803.2:c.880G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369804.2:c.880G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369805.2:c.880G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Infantile hypophosphatasia
Identifiers:
MedGen: C0268412; Orphanet: 436; OMIM: 241500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000793079Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Aug 2, 2017) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.

Taillandier A, Lia-Baldini AS, Mouchard M, Robin B, Muller F, Simon-Bouy B, Serre JL, Bera-Louville A, Bonduelle M, Eckhardt J, Gaillard D, Myhre AG, Körtge-Jung S, Larget-Piet L, Malou E, Sillence D, Temple IK, Viot G, Mornet E.

Hum Mutat. 2001;18(1):83-4.

PubMed [citation]
PMID:
11438998

Details of each submission

From Counsyl, SCV000793079.1

#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: Jul 29, 2023