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NM_001267550.2(TTN):c.65093G>T (p.Arg21698Leu) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Jun 14, 2022
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:
RCV001721158.12

Allele description [Variation Report for NM_001267550.2(TTN):c.65093G>T (p.Arg21698Leu)]

NM_001267550.2(TTN):c.65093G>T (p.Arg21698Leu)

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.65093G>T (p.Arg21698Leu)
Other names:
p.R20057L:CGC>CTC; p.Arg20057Leu
HGVS:
  • NC_000002.12:g.178584458C>A
  • NG_011618.3:g.251345G>T
  • NG_051363.1:g.66632C>A
  • NM_001256850.1:c.60170G>T
  • NM_001267550.2:c.65093G>TMANE SELECT
  • NM_003319.4:c.37898G>T
  • NM_133378.4:c.57389G>T
  • NM_133432.3:c.38273G>T
  • NM_133437.4:c.38474G>T
  • NP_001243779.1:p.Arg20057Leu
  • NP_001254479.2:p.Arg21698Leu
  • NP_003310.4:p.Arg12633Leu
  • NP_596869.4:p.Arg19130Leu
  • NP_597676.3:p.Arg12758Leu
  • NP_597681.4:p.Arg12825Leu
  • LRG_391:g.251345G>T
  • NC_000002.11:g.179449185C>A
  • NM_003319.4:c.37898G>T
Protein change:
R12633L
Links:
dbSNP: rs371581072
NCBI 1000 Genomes Browser:
rs371581072
Molecular consequence:
  • NM_001256850.1:c.60170G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.65093G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.37898G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.57389G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.38273G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.38474G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000237425GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(May 18, 2021)
germlineclinical testing

Citation Link,

SCV004225833Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Jun 14, 2022)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From GeneDx, SCV000237425.8

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

From Mayo Clinic Laboratories, Mayo Clinic, SCV004225833.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 24, 2024