NM_001089.3(ABCA3):c.1702A>G (p.Asn568Asp) AND Surfactant metabolism dysfunction, pulmonary, 3

Clinical significance:Pathogenic (Last evaluated: Mar 25, 2004)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000008479.3

Allele description [Variation Report for NM_001089.3(ABCA3):c.1702A>G (p.Asn568Asp)]

NM_001089.3(ABCA3):c.1702A>G (p.Asn568Asp)

Gene:
ABCA3:ATP binding cassette subfamily A member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_001089.3(ABCA3):c.1702A>G (p.Asn568Asp)
HGVS:
  • NC_000016.10:g.2299442T>C
  • NG_011790.1:g.46305A>G
  • NM_001089.3:c.1702A>GMANE SELECT
  • NP_001080.2:p.Asn568Asp
  • NC_000016.9:g.2349443T>C
  • Q99758:p.Asn568Asp
Protein change:
N568D; ASN568ASP
Links:
UniProtKB: Q99758#VAR_023498; OMIM: 601615.0005; dbSNP: rs121909184
NCBI 1000 Genomes Browser:
rs121909184
Molecular consequence:
  • NM_001089.3:c.1702A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Surfactant metabolism dysfunction, pulmonary, 3 (SMDP3)
Synonyms:
INTERSTITIAL LUNG DISEASE DUE TO ABCA3 DEFICIENCY; PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 3
Identifiers:
MONDO: MONDO:0012582; MedGen: C1970456; OMIM: 610921

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000028687OMIMno assertion criteria providedPathogenic
(Mar 25, 2004)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

ABCA3 gene mutations in newborns with fatal surfactant deficiency.

Shulenin S, Nogee LM, Annilo T, Wert SE, Whitsett JA, Dean M.

N Engl J Med. 2004 Mar 25;350(13):1296-303.

PubMed [citation]
PMID:
15044640

Details of each submission

From OMIM, SCV000028687.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a Hispanic male from a nonconsanguineous family with pulmonary surfactant metabolism dysfunction-3 (SMDP3; 610921), Shulenin et al. (2004) identified heterozygosity for a 1702G-A transition in exon 14 of the ABCA3 gene, resulting in an asn568-to-asp (N568D) mutation. The patient died after lung transplantation. The N568 residue is within the N-terminal ATP-binding domain and is conserved in the mammalian and fish ABCA3 genes as well as almost all other members of ABC subfamily A. The corresponding residue is mutated in the ABCA1 gene (600046) in patients with Tangier disease (205400) and in the ABCA4 gene (601691) in patients with Stargardt disease (248200).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 17, 2020

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