NM_001267550.2(TTN):c.55692T>A (p.Pro18564=) AND not specified

Clinical significance:Likely benign (Last evaluated: Jan 26, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000040377.5

Allele description [Variation Report for NM_001267550.2(TTN):c.55692T>A (p.Pro18564=)]

NM_001267550.2(TTN):c.55692T>A (p.Pro18564=)

Genes:
TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.55692T>A (p.Pro18564=)
HGVS:
  • NC_000002.12:g.178601305A>T
  • NG_011618.3:g.234498T>A
  • NG_051363.1:g.83479A>T
  • NM_001256850.1:c.50769T>A
  • NM_001267550.2:c.55692T>AMANE SELECT
  • NM_003319.4:c.28497T>A
  • NM_133378.4:c.47988T>A
  • NM_133432.3:c.28872T>A
  • NM_133437.4:c.29073T>A
  • NP_001243779.1:p.Pro16923=
  • NP_001254479.2:p.Pro18564=
  • NP_003310.4:p.Pro9499=
  • NP_596869.4:p.Pro15996=
  • NP_597676.3:p.Pro9624=
  • NP_597681.4:p.Pro9691=
  • LRG_391:g.234498T>A
  • NC_000002.11:g.179466032A>T
  • c.47988T>A
  • p.Pro15996Pro
Links:
dbSNP: rs200864020
NCBI 1000 Genomes Browser:
rs200864020
Molecular consequence:
  • NM_001256850.1:c.50769T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001267550.2:c.55692T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003319.4:c.28497T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133378.4:c.47988T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133432.3:c.28872T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133437.4:c.29073T>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
3

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000064068Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Jan 26, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided33not 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 Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000064068.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)

Description

p.Pro15996Pro in exon 236 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1/64708 Europea n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs200864020).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided3not provided3not provided

Last Updated: Jul 7, 2021

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