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NM_001267550.2(TTN):c.6927T>A (p.Asn2309Lys) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Apr 6, 2020
Review status:
criteria provided, conflicting classifications
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000172464.6

Allele description [Variation Report for NM_001267550.2(TTN):c.6927T>A (p.Asn2309Lys)]

NM_001267550.2(TTN):c.6927T>A (p.Asn2309Lys)

Genes:
LOC126806433:BRD4-independent group 4 enhancer GRCh37_chr2:179638309-179639508 [Gene]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.6927T>A (p.Asn2309Lys)
HGVS:
  • NC_000002.12:g.178774337A>T
  • NG_011618.3:g.61466T>A
  • NM_001256850.1:c.6927T>A
  • NM_001267550.2:c.6927T>AMANE SELECT
  • NM_003319.4:c.6789T>A
  • NM_133378.4:c.6927T>A
  • NM_133379.5:c.6927T>A
  • NM_133432.3:c.6789T>A
  • NM_133437.4:c.6789T>A
  • NP_001243779.1:p.Asn2309Lys
  • NP_001254479.2:p.Asn2309Lys
  • NP_003310.4:p.Asn2263Lys
  • NP_596869.4:p.Asn2309Lys
  • NP_596870.2:p.Asn2309Lys
  • NP_597676.3:p.Asn2263Lys
  • NP_597681.4:p.Asn2263Lys
  • LRG_391:g.61466T>A
  • NC_000002.11:g.179639064A>T
  • NM_003319.4:c.6789T>A
Protein change:
N2263K
Links:
dbSNP: rs147580120
NCBI 1000 Genomes Browser:
rs147580120
Molecular consequence:
  • NM_001256850.1:c.6927T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.6927T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.6789T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.6927T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133379.5:c.6927T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.6789T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.6789T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000055103Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq
criteria provided, single submitter

(Ng et al. (Circ Cardiovasc Genet. 2013))
Uncertain significance
(Jun 24, 2013)
unknownresearch

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

SCV001771985GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Apr 6, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot providednot providednot providedresearch
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Interpreting secondary cardiac disease variants in an exome cohort.

Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program.

Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16.

PubMed [citation]
PMID:
23861362
PMCID:
PMC3887521

Details of each submission

From Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq, SCV000055103.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV001771985.1

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

Last Updated: Sep 29, 2024