NM_001267550.2(TTN):c.11311+5216G>A AND not specified

Clinical significance:Benign (Last evaluated: Dec 17, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000041042.5

Allele description [Variation Report for NM_001267550.2(TTN):c.11311+5216G>A]

NM_001267550.2(TTN):c.11311+5216G>A

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.11311+5216G>A
Other names:
p.C4831Y:TGC>TAC
HGVS:
  • NC_000002.12:g.178747908C>T
  • NG_011618.3:g.87895G>A
  • NM_001256850.1:c.10360+5216G>A
  • NM_001267550.2:c.11311+5216G>AMANE SELECT
  • NM_003319.4:c.10222+5216G>A
  • NM_133378.4:c.10360+5216G>A
  • NM_133379.5:c.14492G>A
  • NM_133432.3:c.10597+5216G>A
  • NM_133437.4:c.10798+5216G>A
  • NP_596870.2:p.Cys4831Tyr
  • LRG_391:g.87895G>A
  • NC_000002.11:g.179612635C>T
  • NM_133379.3:c.14492G>A
  • c.14492G>A
Protein change:
C4831Y
Links:
dbSNP: rs150615457
NCBI 1000 Genomes Browser:
rs150615457
Molecular consequence:
  • NM_001256850.1:c.10360+5216G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001267550.2:c.11311+5216G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003319.4:c.10222+5216G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133378.4:c.10360+5216G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.10597+5216G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.10798+5216G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133379.5:c.14492G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
15

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
SCV000064733Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Dec 17, 2014)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1515not providednot providednot providedclinical testing

Citations

PubMed

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, et al.

Genome Biol. 2014 Mar 25;15(3):R53. doi: 10.1186/gb-2014-15-3-r53.

PubMed [citation]
PMID:
24667040
PMCID:
PMC4073084

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, SCV000064733.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided15not providednot providedclinical testing PubMed (2)

Description

p.Cys4831Tyr in exon 46 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 2.35% (390/16604) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs150615457). Moreover, cysteine (Cys) at position 4831 is not conser ved in mammals an evolutionarily distant species and opossum, tasmanian devil, wallaby and platypus have a tyrosine (Tyr) at this position.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided15not provided15not provided

Last Updated: Sep 6, 2021

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