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NM_001089.3(ABCA3):c.2675G>A (p.Arg892His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 19, 2018)
Last evaluated:
Dec 8, 2014
Accession:
VCV000195469.1
Variation ID:
195469
Description:
single nucleotide variant
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NM_001089.3(ABCA3):c.2675G>A (p.Arg892His)

Allele ID
192630
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 2289459 (GRCh38) GRCh38 UCSC
16: 2339460 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.2289459C>T
NC_000016.9:g.2339460C>T
NM_001089.3:c.2675G>A MANE Select NP_001080.2:p.Arg892His missense
NG_011790.1:g.56288G>A
Protein change
R892H
Other names
-
Canonical SPDI
NC_000016.10:2289458:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00080
Exome Aggregation Consortium (ExAC) 0.00037
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00077
The Genome Aggregation Database (gnomAD) 0.00045
The Genome Aggregation Database (gnomAD), exomes 0.00020
1000 Genomes Project 0.00020
Links
ClinGen: CA241906
dbSNP: rs142687030
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Dec 8, 2014 RCV000176045.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ABCA3 - - GRCh38
GRCh37
364 402

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 08, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000227637.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ABCA3 - - - -

Text-mined citations for rs142687030...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 30, 2020