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NM_001267550.2(TTN):c.65633G>C (p.Gly21878Ala) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 13, 2020
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:
RCV000827619.2

Allele description [Variation Report for NM_001267550.2(TTN):c.65633G>C (p.Gly21878Ala)]

NM_001267550.2(TTN):c.65633G>C (p.Gly21878Ala)

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.65633G>C (p.Gly21878Ala)
HGVS:
  • NC_000002.12:g.178583170C>G
  • NG_011618.3:g.252633G>C
  • NG_051363.1:g.65344C>G
  • NM_001256850.1:c.60710G>C
  • NM_001267550.2:c.65633G>CMANE SELECT
  • NM_003319.4:c.38438G>C
  • NM_133378.4:c.57929G>C
  • NM_133432.3:c.38813G>C
  • NM_133437.4:c.39014G>C
  • NP_001243779.1:p.Gly20237Ala
  • NP_001254479.2:p.Gly21878Ala
  • NP_003310.4:p.Gly12813Ala
  • NP_596869.4:p.Gly19310Ala
  • NP_597676.3:p.Gly12938Ala
  • NP_597681.4:p.Gly13005Ala
  • LRG_391:g.252633G>C
  • NC_000002.11:g.179447897C>G
  • NM_001267550.2:c.65633G>C
  • NR_038272.1:n.2358C>G
Protein change:
G12813A
Links:
dbSNP: rs767001973
NCBI 1000 Genomes Browser:
rs767001973
Molecular consequence:
  • NM_001256850.1:c.60710G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.65633G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.38438G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.57929G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.38813G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.39014G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_038272.1:n.2358C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000969276GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Uncertain significance
(Jan 13, 2020)
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, SCV000969276.2

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

Description

Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge; Located in the A-band of the titin protein, where the majority of pathogenic truncating variants have been reported

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

Last Updated: Jul 29, 2024