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NM_001267550.2(TTN):c.40515G>A (p.Pro13505=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000378816.6
Variation ID:
378816
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.40515G>A (p.Pro13505=)

Allele ID
366488
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178642280 (GRCh38) GRCh38 UCSC
2: 179507007 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179507007C>T
NC_000002.12:g.178642280C>T
NM_001267550.2:c.40515G>A MANE Select NP_001254479.2:p.Pro13505= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:178642279:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00026
The Genome Aggregation Database (gnomAD), exomes 0.00070
Exome Aggregation Consortium (ExAC) 0.00097
Trans-Omics for Precision Medicine (TOPMed) 0.00026
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00009
Links
ClinGen: CA1996468
dbSNP: rs367958537
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Jan 25, 2020 RCV000422837.4
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV000470667.6
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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
7296 17194

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(May 30, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000515126.4
Submitted: (Mar 26, 2018)
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)
Benign
(Aug 10, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000710959.2
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Pro10937Pro in exon 168 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is … (more)
Benign
(Jan 25, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001337708.1
Submitted: (Apr 29, 2020)
Evidence details
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000555459.6
Submitted: (Jan 07, 2021)
Evidence details

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 rs367958537...

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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 Jul 07, 2021