NM_006208.3(ENPP1):c.2192del (p.Asn731fs) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 16, 2022
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:: RCV002273895.2

Allele description [Variation Report for NM_006208.3(ENPP1):c.2192del (p.Asn731fs)]

NM_006208.3(ENPP1):c.2192del (p.Asn731fs)

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.2192del (p.Asn731fs)

HGVS:

NC_000006.12:g.131882436del
NG_008206.1:g.79421del
NM_006208.3:c.2192delMANE SELECT
NP_006199.2:p.Asn731fs
LRG_1288t1:c.2192del
LRG_1288:g.79421del
LRG_1288p1:p.Asn731fs
NC_000006.11:g.132203572del
NC_000006.11:g.132203576del

Protein change:

N731fs

Links:

dbSNP: rs2114726975

Molecular consequence:

NM_006208.3:c.2192del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Arterial calcification, generalized, of infancy, 1 (GACI1)
Synonyms:: Idiopathic Infantile Arterial Calcification
Identifiers:: MONDO: MONDO:0008817; MedGen: C4551985; Orphanet: 51608; OMIM: 208000

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
SCV002558775	Genomenon, Inc, Genomenon, Inc	criteria provided, single submitter (Genomenon Sequence Variant Interpretation Standards - 2021 07 19)	Pathogenic (Mar 16, 2022)	germline	research	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002558775

Genomenon, Inc, Genomenon, Inc

criteria provided, single submitter

(Genomenon Sequence Variant Interpretation Standards - 2021 07 19)

Pathogenic
(Mar 16, 2022)

germline

research

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Genomenon, Inc, Genomenon, Inc, SCV002558775.1

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

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

Last Updated: Apr 12, 2026

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