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NM_020297.3(ABCC9):c.4535C>T (p.Thr1512Met)

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Interpretation:
not provided​

Review status:
no assertion provided
Submissions:
1 (Most recent: Nov 17, 2017)
Accession:
VCV000489388.1
Variation ID:
489388
Description:
single nucleotide variant
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NM_020297.3(ABCC9):c.4535C>T (p.Thr1512Met)

Allele ID
482272
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p12.1
Genomic location
12: 21801159 (GRCh38) GRCh38 UCSC
12: 21954093 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.21954093G>A
NC_000012.12:g.21801159G>A
NG_012819.1:g.140536C>T
... more HGVS
Protein change
T1512M
Other names
-
Canonical SPDI
NC_000012.12:21801158:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
1000 Genomes Project 0.00020
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA6480781
dbSNP: rs554811993
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
not provided 1 no assertion provided - RCV000578509.1

Clinical features observed in individuals with this variant

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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ABCC9 - - GRCh38
GRCh37
851 888

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
not provided
(-)
no assertion provided
Method: phenotyping only
Dilated cardiomyopathy 1O
Atrial fibrillation, familial, 12
Allele origin: unknown
GenomeConnect, ClinGen
Accession: SCV000681393.1
Submitted: (Nov 17, 2017)
Evidence details
Comment:
GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical … (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 rs554811993...

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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 08, 2021