NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp) AND not provided

Clinical significance:Likely benign (Last evaluated: Sep 26, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000184787.2

Allele description [Variation Report for NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp)]

NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp)

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.71723G>A (p.Gly23908Asp)
Other names:
p.G22267D:GGC>GAC
HGVS:
  • NC_000002.12:g.178574409C>T
  • NG_011618.3:g.261394G>A
  • NG_051363.1:g.56583C>T
  • NM_001256850.1:c.66800G>A
  • NM_001267550.2:c.71723G>AMANE SELECT
  • NM_003319.4:c.44528G>A
  • NM_133378.4:c.64019G>A
  • NM_133432.3:c.44903G>A
  • NM_133437.4:c.45104G>A
  • NP_001243779.1:p.Gly22267Asp
  • NP_001254479.2:p.Gly23908Asp
  • NP_003310.4:p.Gly14843Asp
  • NP_596869.4:p.Gly21340Asp
  • NP_597676.3:p.Gly14968Asp
  • NP_597681.4:p.Gly15035Asp
  • LRG_391t1:c.71723G>A
  • LRG_391:g.261394G>A
  • NC_000002.11:g.179439136C>T
  • NM_001267550.1:c.71723G>A
Protein change:
G14843D
Links:
dbSNP: rs540161344
NCBI 1000 Genomes Browser:
rs540161344
Molecular consequence:
  • NM_001256850.1:c.66800G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.71723G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.44528G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.64019G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.44903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.45104G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000237499GeneDxno assertion provided
not providedgermlineclinical testing

Citation Link,

SCV001476370Athena Diagnostics Inccriteria provided, single submitter
Likely benign
(Sep 26, 2019)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From GeneDx, SCV000237499.2

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

Description

Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in CARDIOMYOPATHY panel(s).

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

From Athena Diagnostics Inc, SCV001476370.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 6, 2021

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