NM_000478.6(ALPL):c.903del (p.Asn302fs) AND Infantile hypophosphatasia

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 6, 2016
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:: RCV000409238.2

Allele description [Variation Report for NM_000478.6(ALPL):c.903del (p.Asn302fs)]

NM_000478.6(ALPL):c.903del (p.Asn302fs)

Gene:

ALPL:alkaline phosphatase, biomineralization associated [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p36.12

Genomic location:

Preferred name:

NM_000478.6(ALPL):c.903del (p.Asn302fs)

HGVS:

NC_000001.11:g.21573705del
NG_008940.1:g.69341del
NM_000478.6:c.903delMANE SELECT
NM_001127501.4:c.738del
NM_001177520.3:c.672del
NM_001369803.2:c.903del
NM_001369804.2:c.903del
NM_001369805.2:c.903del
NP_000469.3:p.Asn302fs
NP_001120973.2:p.Asn247fs
NP_001170991.1:p.Asn225fs
NP_001356732.1:p.Asn302fs
NP_001356733.1:p.Asn302fs
NP_001356734.1:p.Asn302fs
NC_000001.10:g.21900198del
NM_000478.4:c.903delG

Protein change:

N225fs

Links:

dbSNP: rs768160006

NCBI 1000 Genomes Browser:

rs768160006

Molecular consequence:

NM_000478.6:c.903del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127501.4:c.738del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001177520.3:c.672del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369803.2:c.903del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369804.2:c.903del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369805.2:c.903del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

Recent activity

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Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), ...
Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), transcript variant 1, mRNA
gi|1519314165|ref|NM_004599.4|

Nucleotide
D4Mit100 DNA segment, Chr 4, Massachusetts Institute of Technology 100 [Mus musc...
D4Mit100 DNA segment, Chr 4, Massachusetts Institute of Technology 100 [Mus musculus]
Gene ID:61003

Gene
D4Mit100 AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000486158	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Apr 6, 2016)	unknown	clinical testing	mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000486158

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Apr 6, 2016)

unknown

clinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

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	clinical testing

Details of each submission

From Counsyl, SCV000486158.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	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: Jul 29, 2023

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