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NM_001171.6(ABCC6):c.3306+5G>C AND Autosomal recessive inherited pseudoxanthoma elasticum

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 16, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000499154.3

Allele description [Variation Report for NM_001171.6(ABCC6):c.3306+5G>C]

NM_001171.6(ABCC6):c.3306+5G>C

Gene:
ABCC6:ATP binding cassette subfamily C member 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.11
Genomic location:
Preferred name:
NM_001171.6(ABCC6):c.3306+5G>C
HGVS:
  • NC_000016.10:g.16165618C>G
  • NG_007558.3:g.63000G>C
  • NM_001171.6:c.3306+5G>CMANE SELECT
  • NM_001351800.1:c.2964+5G>C
  • LRG_1115t1:c.3306+5G>C
  • LRG_1115:g.63000G>C
  • NC_000016.9:g.16259475C>G
  • NG_007558.2:g.62854G>C
  • NM_001171.5:c.3306+5G>C
Links:
dbSNP: rs369806278
NCBI 1000 Genomes Browser:
rs369806278
Molecular consequence:
  • NM_001171.6:c.3306+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351800.1:c.2964+5G>C - intron variant - [Sequence Ontology: SO:0001627]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000589282PXE International
no assertion criteria provided
Uncertain significance
(Feb 16, 2021) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Choroidal changes associated with Bruch membrane pathology in pseudoxanthoma elasticum.

Gliem M, Fimmers R, Müller PL, Brinkmann CK, Finger RP, Hendig D, Holz FG, Charbel Issa P.

Am J Ophthalmol. 2014 Jul;158(1):198-207.e3. doi: 10.1016/j.ajo.2014.04.005. Epub 2014 Apr 13.

PubMed [citation]
PMID:
24727260

Details of each submission

From PXE International, SCV000589282.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 14, 2024