NM_000478.6(ALPL):c.522del (p.Ser175fs) AND Infantile hypophosphatasia

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 21, 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:: RCV000409728.2

Allele description [Variation Report for NM_000478.6(ALPL):c.522del (p.Ser175fs)]

NM_000478.6(ALPL):c.522del (p.Ser175fs)

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.522del (p.Ser175fs)

HGVS:

NC_000001.11:g.21564090del
NG_008940.1:g.59726del
NM_000478.6:c.522delMANE SELECT
NM_001127501.4:c.357del
NM_001177520.3:c.291del
NM_001369803.2:c.522del
NM_001369804.2:c.522del
NM_001369805.2:c.522del
NP_000469.3:p.Ser175fs
NP_001120973.2:p.Ser120fs
NP_001170991.1:p.Ser98fs
NP_001356732.1:p.Ser175fs
NP_001356733.1:p.Ser175fs
NP_001356734.1:p.Ser175fs
NC_000001.10:g.21890579del
NC_000001.10:g.21890583del
NM_000478.4:c.522del
NM_000478.4:c.522delC
NM_000478.5:c.522del
NM_000478.5:c.522delC

Protein change:

S120fs

Links:

dbSNP: rs750174638

NCBI 1000 Genomes Browser:

rs750174638

Molecular consequence:

NM_000478.6:c.522del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127501.4:c.357del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001177520.3:c.291del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369803.2:c.522del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369804.2:c.522del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369805.2:c.522del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000486536	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Jun 21, 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

SCV000486536

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Jun 21, 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, SCV000486536.2

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine