NM_006208.3(ENPP1):c.2444+702_*868del AND Hypophosphatemic rickets, autosomal recessive, 2

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Oct 4, 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:: RCV000014562.32

Allele description [Variation Report for NM_006208.3(ENPP1):c.2444+702_*868del]

NM_006208.3(ENPP1):c.2444+702_*868del

Gene:

ENPP1:ectonucleotide pyrophosphatase/phosphodiesterase 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6q23.2

Genomic location:

Preferred name:

NM_006208.3(ENPP1):c.2444+702_*868del

HGVS:

NC_000006.12:g.131885765_131891379del
NG_008206.1:g.82750_88364del
NM_006208.3:c.2444+702_*868delMANE SELECT
LRG_1288t1:c.2444+702_*868del
LRG_1288:g.82750_88364del
NC_000006.11:g.132206904_132212518del
NC_000006.11:g.132206905_132212519del
NC_000006.12:g.131885764_131891378del

Note:

5615-nt deletion in gene ENPP1 starting in intron 23 and ending in the UTR in exon 25.

Nucleotide change:

EX24-25DEL

Links:

dbVar: nssv3761591; dbVar: nsv1067924; OMIM: 173335.0010

Molecular consequence:

NM_006208.3:c.2444+702_*868del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_006208.3:c.2444+702_*868del - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

Condition(s)

Name:: Hypophosphatemic rickets, autosomal recessive, 2 (ARHR2)
Identifiers:: MONDO: MONDO:0013219; MedGen: C2750078; Orphanet: 289176; OMIM: 613312

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000034816	OMIM	no assertion criteria provided	Pathogenic (Feb 12, 2010)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000608351	Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	criteria provided, single submitter (Classification criteria August 2017)	Pathogenic (Oct 4, 2017)	inherited, germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000034816

OMIM

no assertion criteria provided

Pathogenic
(Feb 12, 2010)

germline

literature only

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

SCV000608351

Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

criteria provided, single submitter

(Classification criteria August 2017)

Pathogenic
(Oct 4, 2017)

inherited, germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	inherited	yes	1	not provided	not provided	1	not provided	clinical testing
not provided	germline	yes	2	not provided	not provided	2	not provided	clinical testing

Citations

PubMed

Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.

Lorenz-Depiereux B, Schnabel D, Tiosano D, Häusler G, Strom TM.

Am J Hum Genet. 2010 Feb 12;86(2):267-72. doi: 10.1016/j.ajhg.2010.01.006. Epub 2010 Feb 4.

PubMed [citation]

PMID:: 20137773
PMCID:: PMC2820166

Details of each submission

From OMIM, SCV000034816.3

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

Description

In 2 Turkish brothers with autosomal recessive hypophosphatemic rickets-2 (ARHR2; 613312), Lorenz-Depiereux et al. (2010) identified homozygosity for a deletion of the last 2 exons (24 and 25) of the ENPP1 gene, predicted to truncate the C-terminal part of the nuclease-like domain. The breakpoints lie within single-copy sequences in intron 23 and the 3-prime UTR.

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

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV000608351.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)
2	not provided	1	not provided	not provided	clinical testing	PubMed (1)
3	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	1	blood	not provided		1	not provided	not provided	not provided
2	germline	yes	1	blood	not provided		1	not provided	not provided	not provided
3	germline	yes	1	blood	not provided		1	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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