NM_001171.6(ABCC6):c.2552T>C (p.Leu851Pro) AND Autosomal recessive inherited pseudoxanthoma elasticum

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 2, 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:: RCV000499332.3

Allele description [Variation Report for NM_001171.6(ABCC6):c.2552T>C (p.Leu851Pro)]

NM_001171.6(ABCC6):c.2552T>C (p.Leu851Pro)

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.2552T>C (p.Leu851Pro)

HGVS:

NC_000016.10:g.16177490A>G
NG_007558.3:g.51128T>C
NM_001171.6:c.2552T>CMANE SELECT
NM_001351800.1:c.2210T>C
NP_001162.4:p.Leu851Pro
NP_001162.5:p.Leu851Pro
NP_001338729.1:p.Leu737Pro
LRG_1115t1:c.2552T>C
LRG_1115:g.51128T>C
LRG_1115p1:p.Leu851Pro
NC_000016.9:g.16271347A>G
NG_007558.2:g.50982T>C
NM_001171.5:c.2552T>C

Protein change:

L737P

Links:

dbSNP: rs72653799

NCBI 1000 Genomes Browser:

rs72653799

Molecular consequence:

NM_001171.6:c.2552T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001351800.1:c.2210T>C - missense variant - [Sequence Ontology: SO:0001583]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000589020	PXE International	no assertion criteria provided	Uncertain significance (Feb 2, 2021)	germline	research	PubMed (3) [See all records that cite these PMIDs] 32873932, 16835894, 15723264

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000589020

PXE International

no assertion criteria provided

Uncertain significance
(Feb 2, 2021)

germline

research

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

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

Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE).

Schulz V, Hendig D, Henjakovic M, Szliska C, Kleesiek K, Götting C.

Hum Mutat. 2006 Aug;27(8):831.

PubMed [citation]

PMID:: 16835894

See all PubMed Citations (3)

Details of each submission

From PXE International, SCV000589020.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 14, 2024

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