NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys) AND not specified

Clinical significance:Likely benign (Last evaluated: Jan 15, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000219053.1

Allele description [Variation Report for NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys)]

NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys)

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.863G>A (p.Arg288Lys)
HGVS:
  • NC_000016.10:g.2319591C>T
  • NG_011790.1:g.26156G>A
  • NM_001089.3:c.863G>AMANE SELECT
  • NP_001080.2:p.Arg288Lys
  • NC_000016.9:g.2369592C>T
  • NM_001089.2:c.863G>A
Protein change:
R288K
Links:
dbSNP: rs117603931
NCBI 1000 Genomes Browser:
rs117603931
Molecular consequence:
  • NM_001089.3:c.863G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000269961Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Jan 15, 2015)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency.

Brasch F, Schimanski S, Mühlfeld C, Barlage S, Langmann T, Aslanidis C, Boettcher A, Dada A, Schroten H, Mildenberger E, Prueter E, Ballmann M, Ochs M, Johnen G, Griese M, Schmitz G.

Am J Respir Crit Care Med. 2006 Sep 1;174(5):571-80. Epub 2006 May 25.

PubMed [citation]
PMID:
16728712

A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection.

Copertino M, Barbi E, Poli F, Zennaro F, Ferrari M, Carrera P, Ventura A.

Arch Bronconeumol. 2012 Apr;48(4):139-40. doi: 10.1016/j.arbres.2011.11.008. Epub 2012 Feb 2. English, Spanish. No abstract available.

PubMed [citation]
PMID:
22304854
See all PubMed Citations (4)

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000269961.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)

Description

p.Arg288Lys in exon 8 of ABCA3: This variant is not expected to have clinical si gnificance because it has been identified in 0.95% (642/67532) of European chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs117603931). In addition, multiple mammals (>10) carry a lysine (Lys) a t this position, supporting that this change is tolerated. While this variant ha s been reported in 2 individuals with pulmonary disease (Brasch 2006, Copertino 2012), its frequency in the general population and presence of the variant amino acid in multiple mammals supports that this variant is not likely a primary cau se of disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Sep 29, 2021

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