Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001089.3(ABCA3):c.1729_1730del (p.Ser577fs)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
May 16, 2017
Accession:
VCV001068619.1
Variation ID:
1068619
Description:
2bp microsatellite
Help

NM_001089.3(ABCA3):c.1729_1730del (p.Ser577fs)

Allele ID
1063562
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
16p13.3
Genomic location
16: 2299414-2299415 (GRCh38) GRCh38 UCSC
16: 2349415-2349416 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.2299415AG[1]
NC_000016.9:g.2349416AG[1]
NM_001089.3:c.1729_1730del MANE Select NP_001080.2:p.Ser577fs frameshift
NG_011790.1:g.46330TC[1]
Protein change
S577fs
Other names
-
Canonical SPDI
NC_000016.10:2299413:GAGAG:GAG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter May 16, 2017 RCV001380234.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 16, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001578224.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Ser577Hisfs*19) in the ABCA3 gene. It is expected to result in an absent or disrupted protein … (more)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Lung disease caused by <i>ABCA3</i> mutations. Kröner C Thorax 2017 PMID: 27516224
Surfactant composition and function in patients with ABCA3 mutations. Garmany TH Pediatric research 2006 PMID: 16641205

Record last updated May 13, 2021