NM_001171.6(ABCC6):c.2338del (p.Leu780fs) AND Autosomal recessive inherited pseudoxanthoma elasticum

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 28, 2019
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:: RCV000989540.1

Allele description [Variation Report for NM_001171.6(ABCC6):c.2338del (p.Leu780fs)]

NM_001171.6(ABCC6):c.2338del (p.Leu780fs)

Gene:

ABCC6:ATP binding cassette subfamily C member 6 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

16p13.11

Genomic location:

Preferred name:

NM_001171.6(ABCC6):c.2338del (p.Leu780fs)

HGVS:

NC_000016.10:g.16178879del
NG_007558.3:g.49743del
NM_001171.6:c.2338delMANE SELECT
NM_001351800.1:c.1996del
NP_001162.5:p.Leu780fs
NP_001338729.1:p.Leu666fs
LRG_1115t1:c.2338del
LRG_1115:g.49743del
LRG_1115p1:p.Leu780fs
NC_000016.9:g.16272732del
NC_000016.9:g.16272732delG
NC_000016.9:g.16272736del
NG_007558.2:g.49597del
NR_147784.1:n.2375del

Protein change:

L666fs

Links:

dbSNP: rs1596649191

NCBI 1000 Genomes Browser:

rs1596649191

Molecular consequence:

NM_001171.6:c.2338del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351800.1:c.1996del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_147784.1:n.2375del - 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
SCV001139965	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Pathogenic (May 28, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001139965

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Pathogenic
(May 28, 2019)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Mendelics, SCV001139965.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Mar 5, 2024

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