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NM_001171.6(ABCC6):c.2858T>A (p.Leu953His) AND Autosomal recessive inherited pseudoxanthoma elasticum

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 2, 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:
RCV000499181.3

Allele description [Variation Report for NM_001171.6(ABCC6):c.2858T>A (p.Leu953His)]

NM_001171.6(ABCC6):c.2858T>A (p.Leu953His)

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.2858T>A (p.Leu953His)
HGVS:
  • NC_000016.10:g.16169783A>T
  • NG_007558.3:g.58835T>A
  • NM_001171.6:c.2858T>AMANE SELECT
  • NM_001351800.1:c.2516T>A
  • NP_001162.4:p.Leu953His
  • NP_001162.5:p.Leu953His
  • NP_001338729.1:p.Leu839His
  • LRG_1115t1:c.2858T>A
  • LRG_1115:g.58835T>A
  • LRG_1115p1:p.Leu953His
  • NC_000016.9:g.16263640A>T
  • NG_007558.2:g.58689T>A
  • NM_001171.5:c.2858T>A
  • NR_147784.1:n.2720T>A
Protein change:
L839H
Links:
dbSNP: rs72657700
NCBI 1000 Genomes Browser:
rs72657700
Molecular consequence:
  • NM_001171.6:c.2858T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351800.1:c.2516T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_147784.1:n.2720T>A - 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
SCV000589033PXE International
criteria provided, single submitter

(Submitter's publication)		Uncertain significance
(Feb 2, 2021) 		germlineresearch

PubMed (3)
[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

Molecular docking simulations provide insights in the substrate binding sites and possible substrates of the ABCC6 transporter.

Hosen MJ, Zubaer A, Thapa S, Khadka B, De Paepe A, Vanakker OM.

PLoS One. 2014;9(7):e102779. doi: 10.1371/journal.pone.0102779.

PubMed [citation]
PMID:
25062064
PMCID:
PMC4111409

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
See all PubMed Citations (3)

Details of each submission

From PXE International, SCV000589033.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024