NM_001171.6(ABCC6):c.4216C>A (p.Gln1406Lys) AND Autosomal recessive inherited pseudoxanthoma elasticum

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 1, 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:: RCV000023277.6

Allele description [Variation Report for NM_001171.6(ABCC6):c.4216C>A (p.Gln1406Lys)]

NM_001171.6(ABCC6):c.4216C>A (p.Gln1406Lys)

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.4216C>A (p.Gln1406Lys)

HGVS:

NC_000016.10:g.16150765G>T
NG_007558.3:g.77853C>A
NM_001171.6:c.4216C>AMANE SELECT
NM_001351800.1:c.3874C>A
NP_001162.4:p.Gln1406Lys
NP_001162.5:p.Gln1406Lys
NP_001338729.1:p.Gln1292Lys
LRG_1115t1:c.4216C>A
LRG_1115:g.77853C>A
LRG_1115p1:p.Gln1406Lys
NC_000016.9:g.16244622G>T
NG_007558.2:g.77707C>A
NM_001171.5:c.4216C>A
NR_147784.1:n.3878C>A
O95255:p.Gln1406Lys

Protein change:

Q1292K; GLN1406LYS

Links:

UniProtKB: O95255#VAR_067908; OMIM: 603234.0026; dbSNP: rs387906859

NCBI 1000 Genomes Browser:

rs387906859

Molecular consequence:

NM_001171.6:c.4216C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351800.1:c.3874C>A - missense variant - [Sequence Ontology: SO:0001583]
NR_147784.1:n.3878C>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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000044568	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 2010)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000589280	PXE International	no assertion criteria provided	Pathogenic (Mar 1, 2021)	germline	research	PubMed (2) [See all records that cite these PMIDs] 32873932, 25264593

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000044568

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 2010)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

SCV000589280

PXE International

no assertion criteria provided

Pathogenic
(Mar 1, 2021)

germline

research

PubMed (2)
[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
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.

Le Boulanger G, Labrèze C, Croué A, Schurgers LJ, Chassaing N, Wittkampf T, Rutsch F, Martin L.

Am J Med Genet A. 2010 Jan;152A(1):118-23. doi: 10.1002/ajmg.a.33162.

PubMed [citation]

PMID:: 20034067

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 OMIM, SCV000044568.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of the gln1406-to-lys (Q1406K) mutation in the ABCC6 gene that was identified in compound heterozygous state in a man with pseudoxanthoma elasticum (PXE; 264800) and in his brother with generalized arterial calcification of infancy-2 (GACI2; 614473) by Le Boulanger et al. (2010), see 603234.0025.

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

From PXE International, SCV000589280.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (2)

#	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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