NM_001089.3(ABCA3):c.839G>A (p.Arg280His) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Dec 9, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000219325.1

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]
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
SCV000271479Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Dec 9, 2015)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not 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

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000271479.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

The p.Arg280His variant in ABCA3 has been reported in 1 individual with adult id iopathic interstitial pneumonia (Van Moorsel, 2010). It has been identified in 0 .15% (100/66624) of European chromosomes by the Exome Aggregation Consortium (Ex AC, http://exac.broadinstitute.org; dbSNP rs143008553). Computational prediction tools and conservation analysis suggest that this variant may impact the protei n, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Arg280His variant is uncertain.

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

Last Updated: Jul 7, 2021

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