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NM_001171.6(ABCC6):c.2974G>C (p.Gly992Arg) 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:
RCV000499211.3

Allele description [Variation Report for NM_001171.6(ABCC6):c.2974G>C (p.Gly992Arg)]

NM_001171.6(ABCC6):c.2974G>C (p.Gly992Arg)

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.2974G>C (p.Gly992Arg)
HGVS:
  • NC_000016.10:g.16169667C>G
  • NG_007558.3:g.58951G>C
  • NM_001171.6:c.2974G>CMANE SELECT
  • NM_001351800.1:c.2632G>C
  • NP_001162.4:p.Gly992Arg
  • NP_001162.5:p.Gly992Arg
  • NP_001338729.1:p.Gly878Arg
  • LRG_1115t1:c.2974G>C
  • LRG_1115:g.58951G>C
  • LRG_1115p1:p.Gly992Arg
  • NC_000016.9:g.16263524C>G
  • NG_007558.2:g.58805G>C
  • NM_001171.5:c.2974G>C
  • NR_147784.1:n.2836G>C
Protein change:
G878R
Links:
dbSNP: rs72657692
NCBI 1000 Genomes Browser:
rs72657692
Molecular consequence:
  • NM_001171.6:c.2974G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351800.1:c.2632G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_147784.1:n.2836G>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
SCV000589036PXE 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 providedgermlineyes2not providednot provided2not providedresearch
.germlineyes2not providednot provided2not providedresearch
Causasiansgermlineyes1not providednot provided1not 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

Details of each submission

From PXE International, SCV000589036.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
2not provided1not providednot providedresearch PubMed (1)
3.1not providednot providedresearch PubMed (1)
4.1not providednot providedresearch PubMed (1)
5Causasians1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1bloodnot provided1not providednot providednot provided
2germlineyes1bloodnot provided1not providednot providednot provided
3germlineyes1bloodnot provided1not providednot providednot provided
4germlineyes1bloodnot provided1not providednot providednot provided
5germlineyes1bloodnot provided1not providednot providednot provided

Last Updated: Sep 29, 2024