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NM_001171.6(ABCC6):c.2911T>C (p.Trp971Arg) 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:
RCV000499041.3

Allele description [Variation Report for NM_001171.6(ABCC6):c.2911T>C (p.Trp971Arg)]

NM_001171.6(ABCC6):c.2911T>C (p.Trp971Arg)

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.2911T>C (p.Trp971Arg)
HGVS:
  • NC_000016.10:g.16169730A>G
  • NG_007558.3:g.58888T>C
  • NM_001171.6:c.2911T>CMANE SELECT
  • NM_001351800.1:c.2569T>C
  • NP_001162.4:p.Trp971Arg
  • NP_001162.5:p.Trp971Arg
  • NP_001338729.1:p.Trp857Arg
  • LRG_1115t1:c.2911T>C
  • LRG_1115:g.58888T>C
  • LRG_1115p1:p.Trp971Arg
  • NC_000016.9:g.16263587A>G
  • NG_007558.2:g.58742T>C
  • NM_001171.5:c.2911T>C
  • NR_147784.1:n.2773T>C
Protein change:
W857R
Links:
dbSNP: rs1555510357
NCBI 1000 Genomes Browser:
rs1555510357
Molecular consequence:
  • NM_001171.6:c.2911T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351800.1:c.2569T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_147784.1:n.2773T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000589278PXE International
no assertion criteria provided
Uncertain significance
(Feb 16, 2021) 		germlineresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc.

Verschuere S, Navassiolava N, Martin L, Nevalainen PI, Coucke PJ, Vanakker OM.

Genet Med. 2021 Jan;23(1):131-139. doi: 10.1038/s41436-020-00945-6. Epub 2020 Sep 2.

PubMed [citation]
PMID:
32873932

Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum.

Hosen MJ, Van Nieuwerburgh F, Steyaert W, Deforce D, Martin L, Leftheriotis G, De Paepe A, Coucke PJ, Vanakker OM.

J Invest Dermatol. 2015 Apr;135(4):992-998. doi: 10.1038/jid.2014.421. Epub 2014 Sep 29.

PubMed [citation]
PMID:
25264593
PMCID:
PMC4378258

Details of each submission

From PXE International, SCV000589278.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 14, 2024