NM_001267550.2(TTN):c.85953A>G (p.Leu28651=) AND not specified

Clinical significance:Likely benign (Last evaluated: Oct 30, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000609956.2

Allele description [Variation Report for NM_001267550.2(TTN):c.85953A>G (p.Leu28651=)]

NM_001267550.2(TTN):c.85953A>G (p.Leu28651=)

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.85953A>G (p.Leu28651=)
HGVS:
  • NC_000002.12:g.178560179T>C
  • NG_011618.3:g.275624A>G
  • NG_051363.1:g.42353T>C
  • NM_001256850.1:c.81030A>G
  • NM_001267550.2:c.85953A>GMANE SELECT
  • NM_003319.4:c.58758A>G
  • NM_133378.4:c.78249A>G
  • NM_133432.3:c.59133A>G
  • NM_133437.4:c.59334A>G
  • NP_001243779.1:p.Leu27010=
  • NP_001254479.2:p.Leu28651=
  • NP_003310.4:p.Leu19586=
  • NP_596869.4:p.Leu26083=
  • NP_597676.3:p.Leu19711=
  • NP_597681.4:p.Leu19778=
  • LRG_391:g.275624A>G
  • NC_000002.11:g.179424906T>C
Links:
dbSNP: rs546573613
NCBI 1000 Genomes Browser:
rs546573613
Molecular consequence:
  • NM_001256850.1:c.81030A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001267550.2:c.85953A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003319.4:c.58758A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133378.4:c.78249A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133432.3:c.59133A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133437.4:c.59334A>G - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV001363995Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Likely benign
(Oct 30, 2019)
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, SCV001363995.1

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

Description

Variant summary: TTN c.78249A>G alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 8e-06 in 248612 control chromosomes (gnomAD). 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.78249A>G in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Three ClinVar submitters (evaluation after 2014) cite the variant as likely benign (x2) or uncertain significance (x1). Based on the evidence outlined above, the variant was classified as likely benign.

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

Last Updated: Oct 8, 2021

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