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NM_001089.3(ABCA3):c.1136G>A (p.Gly379Asp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 14, 2020)
Last evaluated:
Jun 1, 2020
Accession:
VCV000978705.1
Variation ID:
978705
Description:
single nucleotide variant
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NM_001089.3(ABCA3):c.1136G>A (p.Gly379Asp)

Allele ID
966782
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 2308599 (GRCh38) GRCh38 UCSC
16: 2358600 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.2308599C>T
NC_000016.9:g.2358600C>T
NM_001089.3:c.1136G>A MANE Select NP_001080.2:p.Gly379Asp missense
NG_011790.1:g.37148G>A
Protein change
G379D
Other names
-
Canonical SPDI
NC_000016.10:2308598:C:T
Functional consequence
Unknown function
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Jun 1, 2020 RCV001257422.1
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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
(Jun 01, 2020)
criteria provided, single submitter
Method: clinical testing
Surfactant metabolism dysfunction, pulmonary, 3
(Autosomal recessive inheritance)
Allele origin: germline
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
Accession: SCV001429634.1
Submitted: (Aug 14, 2020)
Evidence details
Comment:
A homozygous missense variation in exon 11 of the ABCA3 gene that results in the amino acid substitution of Aspartic acid for Glycine at codon … (more)

Functional evidence

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Functional consequence Method Result Submitter Supporting information
Unknown function
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
Accession: SCV001429634.1
Submitted: (Aug 14, 2020)
Evidence details

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.

Record last updated Oct 01, 2020