NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met) AND multiple conditions

Clinical significance:Benign (Last evaluated: Nov 21, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000643752.4

Allele description [Variation Report for NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met)]

NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met)

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.89989T>A (p.Leu29997Met)
Other names:
p.L28356M:TTG>ATG
HGVS:
  • NC_000002.12:g.178552911A>T
  • NG_011618.3:g.282892T>A
  • NG_051363.1:g.35085A>T
  • NM_001256850.1:c.85066T>A
  • NM_001267550.2:c.89989T>AMANE SELECT
  • NM_003319.4:c.62794T>A
  • NM_133378.4:c.82285T>A
  • NM_133432.3:c.63169T>A
  • NM_133437.4:c.63370T>A
  • NP_001243779.1:p.Leu28356Met
  • NP_001254479.2:p.Leu29997Met
  • NP_003310.4:p.Leu20932Met
  • NP_596869.4:p.Leu27429Met
  • NP_597676.3:p.Leu21057Met
  • NP_597681.4:p.Leu21124Met
  • LRG_391:g.282892T>A
  • NC_000002.11:g.179417638A>T
Protein change:
L20932M
Links:
dbSNP: rs369855092
NCBI 1000 Genomes Browser:
rs369855092
Molecular consequence:
  • NM_001256850.1:c.85066T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.89989T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.62794T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.82285T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.63169T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.63370T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dilated cardiomyopathy 1G (CMD1G)
Identifiers:
MONDO: MONDO:0011400; MedGen: C1858763; Orphanet: 154; OMIM: 604145
Name:
Limb-girdle muscular dystrophy, type 2J (LGMDR10)
Synonyms:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10
Identifiers:
MONDO: MONDO:0012127; MedGen: C1837342; Orphanet: 140922; OMIM: 608807

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000765439Invitaecriteria provided, single submitter
Benign
(Nov 21, 2020)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000765439.4

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

Last Updated: Sep 6, 2021

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