NM_001089.3(ABCA3):c.839G>A (p.Arg280His) AND Surfactant metabolism dysfunction, pulmonary, 3

Clinical significance:Uncertain significance (Last evaluated: Aug 27, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000308878.3

Allele description [Variation Report for NM_001089.3(ABCA3):c.839G>A (p.Arg280His)]

NM_001089.3(ABCA3):c.839G>A (p.Arg280His)

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.839G>A (p.Arg280His)
HGVS:
  • NC_000016.10:g.2319615C>T
  • NG_011790.1:g.26132G>A
  • NM_001089.3:c.839G>AMANE SELECT
  • NP_001080.2:p.Arg280His
  • NC_000016.9:g.2369616C>T
  • NM_001089.2:c.839G>A
Protein change:
R280H
Links:
dbSNP: rs143008553
NCBI 1000 Genomes Browser:
rs143008553
Molecular consequence:
  • NM_001089.3:c.839G>A - 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
SCV000396148Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jan 12, 2018)
germlineclinical testing

Citation Link,

SCV001431524Johns Hopkins Genomics, Johns Hopkins Universitycriteria provided, single submitter
Uncertain significance
(Aug 27, 2020)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort.

van Moorsel CH, van Oosterhout MF, Barlo NP, de Jong PA, van der Vis JJ, Ruven HJ, van Es HW, van den Bosch JM, Grutters JC.

Am J Respir Crit Care Med. 2010 Dec 1;182(11):1419-25. doi: 10.1164/rccm.200906-0953OC. Epub 2010 Jul 23.

PubMed [citation]
PMID:
20656946

Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.

Wambach JA, Wegner DJ, Depass K, Heins H, Druley TE, Mitra RD, An P, Zhang Q, Nogee LM, Cole FS, Hamvas A.

Pediatrics. 2012 Dec;130(6):e1575-82. doi: 10.1542/peds.2012-0918. Epub 2012 Nov 19.

PubMed [citation]
PMID:
23166334
PMCID:
PMC3507255
See all PubMed Citations (4)

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000396148.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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

From Johns Hopkins Genomics, Johns Hopkins University, SCV001431524.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2021

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