NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser) AND not specified

Clinical significance:Likely benign (Last evaluated: Sep 5, 2017)

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:
RCV000039910.7

Allele description [Variation Report for NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser)]

NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser)
Other names:
p.C4976S:TGT>TCT
HGVS:
  • NC_000002.12:g.178729497C>G
  • NG_011618.3:g.106306G>C
  • NM_001256850.1:c.17708G>C
  • NM_001267550.2:c.18659G>CMANE SELECT
  • NM_003319.4:c.13282+8585G>C
  • NM_133378.4:c.14927G>C
  • NM_133432.3:c.13657+8585G>C
  • NM_133437.4:c.13858+8585G>C
  • NP_001243779.1:p.Cys5903Ser
  • NP_001254479.2:p.Cys6220Ser
  • NP_596869.4:p.Cys4976Ser
  • NP_596869.4:p.Cys4976Ser
  • LRG_391:g.106306G>C
  • NC_000002.11:g.179594224C>G
  • c.14927G>C
Protein change:
C4976S
Links:
dbSNP: rs191692293
NCBI 1000 Genomes Browser:
rs191692293
Molecular consequence:
  • NM_003319.4:c.13282+8585G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13657+8585G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13858+8585G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.17708G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.18659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.14927G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
6

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
SCV000063601Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Apr 1, 2015)
germlineclinical testing

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

SCV000203740EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(Apr 9, 2014)
germlineclinical testing

Citation Link,

SCV000238255GeneDxcriteria provided, single submitter
Likely benign
(Sep 5, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlinenot provided66not 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, SCV000063601.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided6not providednot providedclinical testing PubMed (1)

Description

p.Cys4976Ser in exon 61 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.5% (52/9760) of African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs191692293).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided6not provided6not provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000203740.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV000238255.3

#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

Last Updated: Sep 12, 2021

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