NM_001267550.2(TTN):c.65515G>A (p.Ala21839Thr) AND not provided

Clinical significance:Likely benign (Last evaluated: Nov 15, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001721159.1

Allele description [Variation Report for NM_001267550.2(TTN):c.65515G>A (p.Ala21839Thr)]

NM_001267550.2(TTN):c.65515G>A (p.Ala21839Thr)

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.65515G>A (p.Ala21839Thr)
Other names:
p.A20198T:GCG>ACG
HGVS:
  • NC_000002.12:g.178583667C>T
  • NG_011618.3:g.252136G>A
  • NG_051363.1:g.65841C>T
  • NM_001256850.1:c.60592G>A
  • NM_001267550.2:c.65515G>AMANE SELECT
  • NM_003319.4:c.38320G>A
  • NM_133378.4:c.57811G>A
  • NM_133432.3:c.38695G>A
  • NM_133437.4:c.38896G>A
  • NP_001243779.1:p.Ala20198Thr
  • NP_001254479.2:p.Ala21839Thr
  • NP_003310.4:p.Ala12774Thr
  • NP_596869.4:p.Ala19271Thr
  • NP_597676.3:p.Ala12899Thr
  • NP_597681.4:p.Ala12966Thr
  • LRG_391:g.252136G>A
  • NC_000002.11:g.179448394C>T
  • NR_038272.1:n.2513C>T
  • Q8WZ42:p.Ala20198Thr
Protein change:
A12774T
Links:
UniProtKB: Q8WZ42#VAR_040209; dbSNP: rs56378177
NCBI 1000 Genomes Browser:
rs56378177
Molecular consequence:
  • NM_001256850.1:c.60592G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.65515G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.38320G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.57811G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.38695G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.38896G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_038272.1:n.2513C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000237430GeneDxcriteria provided, single submitter
Likely benign
(Nov 15, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000237430.7

#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: Dec 4, 2021

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