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NM_001089.3(ABCA3):c.3613G>A (p.Gly1205Arg) AND Disorder of lung

Germline classification:
Uncertain significance (1 submission)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001824065.2

Allele description [Variation Report for NM_001089.3(ABCA3):c.3613G>A (p.Gly1205Arg)]

NM_001089.3(ABCA3):c.3613G>A (p.Gly1205Arg)

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.3613G>A (p.Gly1205Arg)
HGVS:
  • NC_000016.10:g.2284869C>T
  • NG_011790.1:g.60878G>A
  • NM_001089.3:c.3613G>AMANE SELECT
  • NP_001080.2:p.Gly1205Arg
  • NC_000016.9:g.2334870C>T
  • NM_001089.2:c.3613G>A
Protein change:
G1205R
Links:
dbSNP: rs549977217
NCBI 1000 Genomes Browser:
rs549977217
Molecular consequence:
  • NM_001089.3:c.3613G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Disorder of lung
Synonyms:
Lung disorder
Identifiers:
MONDO: MONDO:0005275; MedGen: C0024115

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002072634Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significanceunknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital, SCV002072634.1

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

Description

The p.Gly1205Arg substitutes the glycine at position 1205 with arginine. The majority of in silico tools predict that this variant is tolerated and this position is not conserved across species. This missense variant has been documented in a large database of presumably healthy individuals, with an allele frequency of 0.6% in individuals with East Asian ancestry (113 out of 18,388 alleles, ~ 1/81 are carriers, Genome Aggregation Database).

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

Last Updated: Sep 29, 2024