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NM_000363.5(TNNI3):c.554A>G (p.Asn185Ser)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2019)
Last evaluated:
Jun 25, 2012
Accession:
VCV000181588.2
Variation ID:
181588
Description:
single nucleotide variant
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NM_000363.5(TNNI3):c.554A>G (p.Asn185Ser)

Allele ID
179842
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.42
Genomic location
19: 55151913 (GRCh38) GRCh38 UCSC
19: 55663281 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.55151913T>C
NC_000019.9:g.55663281T>C
NM_000363.5:c.554A>G MANE Select NP_000354.4:p.Asn185Ser missense
... more HGVS
Protein change
N185S
Other names
p.N185S:AAC>AGC
Canonical SPDI
NC_000019.10:55151912:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA021896
dbSNP: rs730881079
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jun 25, 2012 RCV000159238.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TNNI3 Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
438 493

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jun 25, 2012)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000209184.10
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The Asn185Ser variant in the TNNI3 gene has not been reported as a disease-causing mutation or as a benign polymorphism, to our knowledge. However, a … (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 rs730881079...

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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 Feb 27, 2021