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NM_001171.6(ABCC6):c.4041G>C (p.Gln1347His) AND Autosomal recessive inherited pseudoxanthoma elasticum

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 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:
RCV000499117.3

Allele description [Variation Report for NM_001171.6(ABCC6):c.4041G>C (p.Gln1347His)]

NM_001171.6(ABCC6):c.4041G>C (p.Gln1347His)

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.4041G>C (p.Gln1347His)
HGVS:
  • NC_000016.10:g.16154873C>G
  • NG_007558.3:g.73745G>C
  • NM_001171.6:c.4041G>CMANE SELECT
  • NM_001351800.1:c.3699G>C
  • NP_001162.4:p.Gln1347His
  • NP_001162.5:p.Gln1347His
  • NP_001338729.1:p.Gln1233His
  • LRG_1115t1:c.4041G>C
  • LRG_1115:g.73745G>C
  • LRG_1115p1:p.Gln1347His
  • NC_000016.9:g.16248730C>G
  • NG_007558.2:g.73599G>C
  • NM_001171.5:c.4041G>C
  • NR_147784.1:n.3703G>C
Protein change:
Q1233H
Links:
dbSNP: rs63751111
NCBI 1000 Genomes Browser:
rs63751111
Molecular consequence:
  • NM_001171.6:c.4041G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351800.1:c.3699G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_147784.1:n.3703G>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
SCV000589104PXE International
criteria provided, single submitter

(Submitter's publication)		Pathogenic
(Mar 1, 2021) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
.germlineyes2not providednot provided2not 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

A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.

Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, Göring HH, Johnson EW, De Paepe A, Pope FM, Pasquali-Ronchetti I, Bercovitch L, Marais AS, Viljoen DL, Terry SF, Boyd CD.

Am J Hum Genet. 2001 Oct;69(4):749-64. Epub 2001 Aug 31. Erratum in: Am J Hum Genet 2001 Dec;69(6):1413. Am J Hum Genet 2002 Aug;71(2):448.

PubMed [citation]
PMID:
11536079
PMCID:
PMC1226061

Details of each submission

From PXE International, SCV000589104.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1.1not providednot providedresearch PubMed (2)
2.1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1bloodnot provided1not providednot providednot provided
2germlineyes1bloodnot provided1not providednot providednot provided

Last Updated: Feb 14, 2024