NM_001267550.2(TTN):c.40515G>A (p.Pro13505=) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Jan 25, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000422837.4

Allele description [Variation Report for NM_001267550.2(TTN):c.40515G>A (p.Pro13505=)]

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

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.40515G>A (p.Pro13505=)
HGVS:
  • NC_000002.12:g.178642280C>T
  • NG_011618.3:g.193523G>A
  • NM_001256850.1:c.35592G>A
  • NM_001267550.2:c.40515G>AMANE SELECT
  • NM_003319.4:c.13320G>A
  • NM_133378.4:c.32811G>A
  • NM_133432.3:c.13695G>A
  • NM_133437.4:c.13896G>A
  • NP_001243779.1:p.Pro11864=
  • NP_001254479.2:p.Pro13505=
  • NP_003310.4:p.Pro4440=
  • NP_596869.4:p.Pro10937=
  • NP_597676.3:p.Pro4565=
  • NP_597681.4:p.Pro4632=
  • LRG_391:g.193523G>A
  • NC_000002.11:g.179507007C>T
  • p.Pro10937Pro
Links:
dbSNP: rs367958537
NCBI 1000 Genomes Browser:
rs367958537
Molecular consequence:
  • NM_001256850.1:c.35592G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001267550.2:c.40515G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003319.4:c.13320G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133378.4:c.32811G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133432.3:c.13695G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133437.4:c.13896G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000515126GeneDxcriteria provided, single submitter
Likely benign
(May 30, 2017)
germlineclinical testing

Citation Link,

SCV000710959Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Aug 10, 2017)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001337708Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Benign
(Jan 25, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From GeneDx, SCV000515126.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

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 a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000710959.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

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 not located wit hin the splice consensus sequence. It has been identified in (0.4%) 156/31978 La tino chromosomes by the Genome Aggregation Database (gnomAD, http://gmomad.broad institute.org; dbSNP rs367958537).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001337708.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2021

Support Center