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NM_001267550.2(TTN):c.41932G>A (p.Glu13978Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 19, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003331177.1

Allele description [Variation Report for NM_001267550.2(TTN):c.41932G>A (p.Glu13978Lys)]

NM_001267550.2(TTN):c.41932G>A (p.Glu13978Lys)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.41932G>A (p.Glu13978Lys)
HGVS:
  • NC_000002.12:g.178635257C>T
  • NG_011618.3:g.200546G>A
  • NM_001256850.1:c.37009G>A
  • NM_001267550.2:c.41932G>AMANE SELECT
  • NM_003319.4:c.14737G>A
  • NM_133378.4:c.34228G>A
  • NM_133432.3:c.15112G>A
  • NM_133437.4:c.15313G>A
  • NP_001243779.1:p.Glu12337Lys
  • NP_001254479.2:p.Glu13978Lys
  • NP_003310.4:p.Glu4913Lys
  • NP_596869.4:p.Glu11410Lys
  • NP_597676.3:p.Glu5038Lys
  • NP_597681.4:p.Glu5105Lys
  • LRG_391:g.200546G>A
  • NC_000002.11:g.179499984C>T
  • NM_001267550.2:c.41932G>A
  • NM_133378.4:c.34228G>A
Protein change:
E11410K
Links:
dbSNP: rs746667196
NCBI 1000 Genomes Browser:
rs746667196
Molecular consequence:
  • NM_001256850.1:c.37009G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.41932G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.14737G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.34228G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.15112G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.15313G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004038659Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Uncertain significance
(Aug 19, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004038659.1

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

Last Updated: Aug 25, 2024