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NM_001267550.2(TTN):c.31505C>T (p.Ser10502Leu)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Apr 29, 2020)
Last evaluated:
Jan 6, 2020
Accession:
VCV000497025.3
Variation ID:
497025
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.31505C>T (p.Ser10502Leu)

Allele ID
488449
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178693930 (GRCh38) GRCh38 UCSC
2: 179558657 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179558657G>A
NC_000002.12:g.178693930G>A
NM_001267550.2:c.31505C>T MANE Select NP_001254479.2:p.Ser10502Leu missense
... more HGVS
Protein change
S10502L, S9258L, S10185L
Other names
-
Canonical SPDI
NC_000002.12:178693929:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00013
Exome Aggregation Consortium (ExAC) 0.00013
Links
dbSNP: rs768632287
ClinGen: CA1998943
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jan 6, 2020 RCV001174673.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations May 7, 2018 RCV000593097.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TTN - - GRCh38
GRCh37
7638 17883

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 28, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000701098.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(May 07, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000968573.1
Submitted: (Apr 12, 2019)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(Jan 06, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001337891.1
Submitted: (Apr 29, 2020)
Evidence details
Comment:
Variant summary: TTN c.27773C>T (p.Ser9258Leu) results in a non-conservative amino acid change located in the I-band region of the encoded protein sequence. Three of five … (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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=TTN - - - -

Text-mined citations for rs768632287...

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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 Jun 14, 2021