NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln) 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:

Allele description [Variation Report for NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln)]

NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln)

TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln)
Other names:
  • NC_000002.12:g.178684038T>G
  • NG_011618.3:g.151765A>C
  • NM_001256850.1:c.31816A>C
  • NM_001267550.2:c.32767A>CMANE SELECT
  • NM_003319.4:c.13283-41721A>C
  • NM_133378.4:c.29035A>C
  • NM_133432.3:c.13658-41721A>C
  • NM_133437.4:c.13859-41721A>C
  • NP_001243779.1:p.Lys10606Gln
  • NP_001254479.2:p.Lys10923Gln
  • NP_596869.4:p.Lys9679Gln
  • LRG_391t1:c.32767A>C
  • LRG_391:g.151765A>C
  • NC_000002.11:g.179548765T>G
  • NM_001267550.1:c.32767A>C
Protein change:
dbSNP: rs367720439
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_003319.4:c.13283-41721A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13658-41721A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13859-41721A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.31816A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.32767A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.29035A>C - missense variant - [Sequence Ontology: SO:0001583]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000237089GeneDxno assertion provided
not providedgermlineclinical testing

Citation Link,

SCV001477124Athena 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 providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing



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]

Details of each submission

From GeneDx, SCV000237089.2

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


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).

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

From Athena Diagnostics Inc, SCV001477124.1

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

Last Updated: Sep 6, 2021

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