NM_000478.6(ALPL):c.809G>A (p.Trp270Ter) AND Infantile hypophosphatasia

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 21, 2014
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:: RCV000169412.2

Allele description [Variation Report for NM_000478.6(ALPL):c.809G>A (p.Trp270Ter)]

NM_000478.6(ALPL):c.809G>A (p.Trp270Ter)

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.809G>A (p.Trp270Ter)

HGVS:

NC_000001.11:g.21570321G>A
NG_008940.1:g.65957G>A
NM_000478.6:c.809G>AMANE SELECT
NM_001127501.4:c.644G>A
NM_001177520.3:c.578G>A
NM_001369803.2:c.809G>A
NM_001369804.2:c.809G>A
NM_001369805.2:c.809G>A
NP_000469.3:p.Trp270Ter
NP_001120973.2:p.Trp215Ter
NP_001170991.1:p.Trp193Ter
NP_001356732.1:p.Trp270Ter
NP_001356733.1:p.Trp270Ter
NP_001356734.1:p.Trp270Ter
NC_000001.10:g.21896814G>A
NM_000478.4:c.809G>A
NM_000478.5:c.809G>A

Protein change:

W193*

Links:

dbSNP: rs786204634

NCBI 1000 Genomes Browser:

rs786204634

Molecular consequence:

NM_000478.6:c.809G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001127501.4:c.644G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001177520.3:c.578G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001369803.2:c.809G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001369804.2:c.809G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001369805.2:c.809G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000220816	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Oct 21, 2014)	unknown	literature only	PubMed (2) [See all records that cite these PMIDs] 10332035, 9781036 Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015) Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000220816

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Likely pathogenic
(Oct 21, 2014)

unknown

literature only

PubMed (2)
[See all records that cite these PMIDs]

Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015)

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Correlations of genotype and phenotype in hypophosphatasia.

Zurutuza L, Muller F, Gibrat JF, Taillandier A, Simon-Bouy B, Serre JL, Mornet E.

Hum Mol Genet. 1999 Jun;8(6):1039-46.

PubMed [citation]

PMID:: 10332035

Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.

Mornet E, Taillandier A, Peyramaure S, Kaper F, Muller F, Brenner R, Bussière P, Freisinger P, Godard J, Le Merrer M, Oury JF, Plauchu H, Puddu R, Rival JM, Superti-Furga A, Touraine RL, Serre JL, Simon-Bouy B.

Eur J Hum Genet. 1998 Jul-Aug;6(4):308-14.

PubMed [citation]

PMID:: 9781036

Details of each submission

From Counsyl, SCV000220816.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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