NM_001183.5(ATP6AP1):c.938A>G (p.Tyr313Cys) AND Immunodeficiency due to ficolin 3 deficiency

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 20, 2016
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:: RCV000225189.1

Allele description

NM_001183.5(ATP6AP1):c.938A>G (p.Tyr313Cys)

Gene:

ATP6AP1:ATPase H+ transporting accessory protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_001183.5(ATP6AP1):c.938A>G (p.Tyr313Cys)

HGVS:

NC_000023.11:g.154435153A>G
NG_052807.1:g.11522A>G
NM_001183.5:c.938A>G
NP_001174.2:p.Tyr313Cys
NC_000023.10:g.153663499A>G
NM_001183.4:c.938A>G

Protein change:

Y313C; TYR313CYS

Links:

OMIM: 300197.0004; dbSNP: rs878853278

NCBI 1000 Genomes Browser:

rs878853278

Molecular consequence:

NM_001183.5:c.938A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Immunodeficiency due to ficolin 3 deficiency
Synonyms:: FICOLIN 3 DEFICIENCY; FCN3 DEFICIENCY; LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 3
Identifiers:: MedGen: C3151226; OMIM: 613860

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000282225	OMIM	no assertion criteria provided	Pathogenic (Jun 20, 2016)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000282225

OMIM

no assertion criteria provided

Pathogenic
(Jun 20, 2016)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.

Jansen EJ, Timal S, Ryan M, Ashikov A, van Scherpenzeel M, Graham LA, Mandel H, Hoischen A, Iancu TC, Raymond K, Steenbergen G, Gilissen C, Huijben K, van Bakel NH, Maeda Y, Rodenburg RJ, Adamowicz M, Crushell E, Koenen H, Adams D, Vodopiutz J, Greber-Platzer S, et al.

Nat Commun. 2016 May 27;7:11600. doi: 10.1038/ncomms11600.

PubMed [citation]

PMID:: 27231034
PMCID:: PMC4894975

Details of each submission

From OMIM, SCV000282225.1

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

Description

In a boy with immunodeficiency-47 (IMD47; 300972), Jansen et al. (2016) identified a hemizygous c.938A-G transition (c.938A-G, NM_001183.4) in exon 8 of the ATP6A1 gene, resulting in a tyr313-to-cys (Y313C) substitution at a highly conserved residue. The mutation was found by exome sequencing. Yeast transfected with the mutation showed a significant growth defect compared to controls.

#	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

Last Updated: Feb 7, 2017

ClinVar

Relating variation to medicine