NM_001171.5(ABCC6):c.144_795-3del AND Autosomal recessive inherited pseudoxanthoma elasticum

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 12, 2021
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:: RCV000499123.3

Allele description [Variation Report for NM_001171.5(ABCC6):c.144_795-3del]

NM_001171.5(ABCC6):c.144_795-3del

Gene:

ABCC6:ATP binding cassette subfamily C member 6 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

16p13.11

Genomic location:

Preferred name:

NM_001171.5(ABCC6):c.144_795-3del

HGVS:

NC_000016.10:g.16203616_16221724del
NC_000016.9:g.16297473_16315581del
NM_001171.5:c.144_795-3del

Links:

Condition(s)

Name:: Autosomal recessive inherited pseudoxanthoma elasticum (PXE)
Synonyms:: Gronblad Strandberg syndrome
Identifiers:: MONDO: MONDO:0009925; MedGen: C1275116; Orphanet: 758; OMIM: 264800

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000589147	PXE International	criteria provided, single submitter (Submitter's publication)	Uncertain significance (Mar 12, 2021)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000589147

PXE International

criteria provided, single submitter

(Submitter's publication)

Uncertain significance
(Mar 12, 2021)

germline

research

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

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

Citations

PubMed

Copy number variation in the ATP-binding cassette transporter ABCC6 gene and ABCC6 pseudogenes in patients with pseudoxanthoma elasticum.

Kringen MK, Stormo C, Berg JP, Terry SF, Vocke CM, Rizvi S, Hendig D, Piehler AP.

Mol Genet Genomic Med. 2015 May;3(3):233-7. doi: 10.1002/mgg3.137. Epub 2015 Mar 8.

PubMed [citation]

PMID:: 26029710
PMCID:: PMC4444165

Details of each submission

From PXE International, SCV000589147.2

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

#	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: Feb 14, 2024

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