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NM_000478.6(ALPL):c.655A>G (p.Met219Val) AND Hypophosphatasia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 14, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001825976.1

Allele description [Variation Report for NM_000478.6(ALPL):c.655A>G (p.Met219Val)]

NM_000478.6(ALPL):c.655A>G (p.Met219Val)

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.655A>G (p.Met219Val)
HGVS:
  • NC_000001.11:g.21568110A>G
  • NG_008940.1:g.63746A>G
  • NM_000478.6:c.655A>GMANE SELECT
  • NM_001127501.4:c.490A>G
  • NM_001177520.3:c.424A>G
  • NM_001369803.2:c.655A>G
  • NM_001369804.2:c.655A>G
  • NM_001369805.2:c.655A>G
  • NP_000469.3:p.Met219Val
  • NP_001120973.2:p.Met164Val
  • NP_001170991.1:p.Met142Val
  • NP_001356732.1:p.Met219Val
  • NP_001356733.1:p.Met219Val
  • NP_001356734.1:p.Met219Val
  • NC_000001.10:g.21894603A>G
Protein change:
M142V
Links:
dbSNP: rs772432010
NCBI 1000 Genomes Browser:
rs772432010
Molecular consequence:
  • NM_000478.6:c.655A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127501.4:c.490A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177520.3:c.424A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369803.2:c.655A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369804.2:c.655A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369805.2:c.655A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypophosphatasia
Synonyms:
Phosphoethanol-aminuria
Identifiers:
MONDO: MONDO:0018570; MedGen: C0020630

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002094065Natera, Inc.
no assertion criteria provided
Uncertain significance
(Oct 14, 2021)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002094065.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024