NM_001089.3(ABCA3):c.1729_1730del (p.Ser577fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: May 16, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001380234.1

Allele description [Variation Report for NM_001089.3(ABCA3):c.1729_1730del (p.Ser577fs)]

NM_001089.3(ABCA3):c.1729_1730del (p.Ser577fs)

Gene:
ABCA3:ATP binding cassette subfamily A member 3 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_001089.3(ABCA3):c.1729_1730del (p.Ser577fs)
HGVS:
  • NC_000016.10:g.2299415AG[1]
  • NG_011790.1:g.46330TC[1]
  • NM_001089.3:c.1729_1730delMANE SELECT
  • NP_001080.2:p.Ser577fs
  • NC_000016.9:g.2349415_2349416delGA
  • NC_000016.9:g.2349416AG[1]
Protein change:
S577fs
Links:
Molecular consequence:
  • NM_001089.3:c.1729_1730del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001578224Invitaecriteria provided, single submitter
Pathogenic
(May 16, 2017)
germlineclinical testing

PubMed (3)
[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 composition and function in patients with ABCA3 mutations.

Garmany TH, Moxley MA, White FV, Dean M, Hull WM, Whitsett JA, Nogee LM, Hamvas A.

Pediatr Res. 2006 Jun;59(6):801-5. Epub 2006 Apr 26.

PubMed [citation]
PMID:
16641205

Lung disease caused by ABCA3 mutations.

Kröner C, Wittmann T, Reu S, Teusch V, Klemme M, Rauch D, Hengst M, Kappler M, Cobanoglu N, Sismanlar T, Aslan AT, Campo I, Proesmans M, Schaible T, Terheggen-Lagro S, Regamey N, Eber E, Seidenberg J, Schwerk N, Aslanidis C, Lohse P, Brasch F, et al.

Thorax. 2017 Mar;72(3):213-220. doi: 10.1136/thoraxjnl-2016-208649. Epub 2016 Aug 11.

PubMed [citation]
PMID:
27516224
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001578224.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Ser577Hisfs*19) in the ABCA3 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with pulmonary alveolar proteinosis (PMID: 16641205). Loss-of-function variants in ABCA3 are known to be pathogenic (PMID: 27516224). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: May 14, 2021

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