NM_001267550.2(TTN):c.65649G>T (p.Leu21883Phe) AND not specified

Clinical significance:Likely benign (Last evaluated: Jul 29, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000152253.2

Allele description [Variation Report for NM_001267550.2(TTN):c.65649G>T (p.Leu21883Phe)]

NM_001267550.2(TTN):c.65649G>T (p.Leu21883Phe)

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.65649G>T (p.Leu21883Phe)
HGVS:
  • NC_000002.12:g.178583154C>A
  • NG_011618.3:g.252649G>T
  • NG_051363.1:g.65328C>A
  • NM_001256850.1:c.60726G>T
  • NM_001267550.2:c.65649G>TMANE SELECT
  • NM_003319.4:c.38454G>T
  • NM_133378.4:c.57945G>T
  • NM_133432.3:c.38829G>T
  • NM_133437.4:c.39030G>T
  • NP_001243779.1:p.Leu20242Phe
  • NP_001254479.2:p.Leu21883Phe
  • NP_003310.4:p.Leu12818Phe
  • NP_596869.4:p.Leu19315Phe
  • NP_597676.3:p.Leu12943Phe
  • NP_597681.4:p.Leu13010Phe
  • LRG_391:g.252649G>T
  • NC_000002.11:g.179447881C>A
  • NR_038272.1:n.2342C>A
Protein change:
L12818F
Links:
dbSNP: rs374736305
NCBI 1000 Genomes Browser:
rs374736305
Molecular consequence:
  • NM_001256850.1:c.60726G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.65649G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.38454G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.57945G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.38829G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.39030G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_038272.1:n.2342C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

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
SCV000201072Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Jul 29, 2019)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown11not 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, SCV000201072.6

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

Description

proposed classification - variant undergoing re-assessment, contact laboratory

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

Last Updated: Nov 27, 2021

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