NM_001089.3(ABCA3):c.4909+1G>A 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:
RCV000008480.3

Allele description [Variation Report for NM_001089.3(ABCA3):c.4909+1G>A]

NM_001089.3(ABCA3):c.4909+1G>A

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.4909+1G>A
HGVS:
  • NC_000016.10:g.2277878C>T
  • NG_011790.1:g.67869G>A
  • NM_001089.3:c.4909+1G>AMANE SELECT
  • NC_000016.9:g.2327879C>T
  • NM_001089.2:c.4909+1G>A
Note:
ClinGen staff contributed the HGVS expression for this variant.
Nucleotide change:
4909, G-A, +1
Links:
OMIM: 601615.0006; dbSNP: rs1567335355
NCBI 1000 Genomes Browser:
rs1567335355
Molecular consequence:
  • NM_001089.3:c.4909+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000028688OMIMno 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, SCV000028688.2

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

Description

In 2 Asian female cousins from consanguineous families with pulmonary surfactant metabolism dysfunction-3 (SMDP3; 610921), Shulenin et al. (2004) identified homozygosity for a 4909+1G-A splice mutation in exon 31 of the ABCA3 gene. Histologic findings in 1 infant included pulmonary alveolar proteinosis; both infants died during the neonatal period.

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

Last Updated: Apr 17, 2020

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