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NM_001089.3(ABCA3):c.-561C>A

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 20, 2020)
Last evaluated:
Jan 12, 2018
Accession:
VCV000318598.2
Variation ID:
318598
Description:
single nucleotide variant
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NM_001089.3(ABCA3):c.-561C>A

Allele ID
324747
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 2340595 (GRCh38) GRCh38 UCSC
16: 2390596 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.2340595G>T
NC_000016.9:g.2390596G>T
NM_001089.3:c.-561C>A MANE Select 5 prime UTR
NG_011790.1:g.5152C>A
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:2340594:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.09345 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.10525
Trans-Omics for Precision Medicine (TOPMed) 0.09921
1000 Genomes Project 0.09345
Links
dbSNP: rs45456893
ClinGen: CA10637381
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000403134.2
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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
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Surfactant metabolism dysfunction, pulmonary, 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000396184.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs45456893...

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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 May 31, 2020