NM_001267550.2(TTN):c.2744G>A (p.Arg915His) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Mar 11, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000184168.3

Allele description [Variation Report for NM_001267550.2(TTN):c.2744G>A (p.Arg915His)]

NM_001267550.2(TTN):c.2744G>A (p.Arg915His)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.2744G>A (p.Arg915His)
Other names:
p.R915H:CGC>CAC
HGVS:
  • NC_000002.12:g.178784101C>T
  • NG_011618.3:g.51702G>A
  • NM_001256850.1:c.2744G>A
  • NM_001267550.2:c.2744G>AMANE SELECT
  • NM_003319.4:c.2606G>A
  • NM_133378.4:c.2744G>A
  • NM_133379.5:c.2744G>A
  • NM_133432.3:c.2606G>A
  • NM_133437.4:c.2606G>A
  • NP_001243779.1:p.Arg915His
  • NP_001254479.2:p.Arg915His
  • NP_003310.4:p.Arg869His
  • NP_596869.4:p.Arg915His
  • NP_596870.2:p.Arg915His
  • NP_597676.3:p.Arg869His
  • NP_597681.4:p.Arg869His
  • LRG_391t1:c.2744G>A
  • LRG_391:g.51702G>A
  • NC_000002.11:g.179648828C>T
  • NM_001267550.1:c.2744G>A
Protein change:
R869H
Links:
dbSNP: rs376922544
NCBI 1000 Genomes Browser:
rs376922544
Molecular consequence:
  • NM_001256850.1:c.2744G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.2744G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.2606G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.2744G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133379.5:c.2744G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.2606G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.2606G>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
SCV001519405Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Mar 11, 2021)
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, SCV001519405.1

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

Description

Variant summary: TTN c.2744G>A (p.Arg915His) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 251008 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2744G>A in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Oct 6, 2021

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