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NM_001267550.2(TTN):c.97578C>T (p.Asp32526=) AND Tibial muscular dystrophy

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 10, 2021
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:
RCV001839912.10

Allele description [Variation Report for NM_001267550.2(TTN):c.97578C>T (p.Asp32526=)]

NM_001267550.2(TTN):c.97578C>T (p.Asp32526=)

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.97578C>T (p.Asp32526=)
HGVS:
  • NC_000002.12:g.178541499G>A
  • NG_011618.3:g.294304C>T
  • NG_051363.1:g.23673G>A
  • NM_001256850.1:c.92655C>T
  • NM_001267550.2:c.97578C>TMANE SELECT
  • NM_003319.4:c.70383C>T
  • NM_133378.4:c.89874C>T
  • NM_133432.3:c.70758C>T
  • NM_133437.4:c.70959C>T
  • NP_001243779.1:p.Asp30885=
  • NP_001254479.2:p.Asp32526=
  • NP_003310.4:p.Asp23461=
  • NP_596869.4:p.Asp29958=
  • NP_597676.3:p.Asp23586=
  • NP_597681.4:p.Asp23653=
  • LRG_391t1:c.97578C>T
  • LRG_391:g.294304C>T
  • NC_000002.11:g.179406226G>A
  • NM_001267550.1:c.97578C>T
  • NM_003319.4:c.70383C>T
Links:
dbSNP: rs142907833
NCBI 1000 Genomes Browser:
rs142907833
Molecular consequence:
  • NM_001256850.1:c.92655C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001267550.2:c.97578C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003319.4:c.70383C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133378.4:c.89874C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133432.3:c.70758C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133437.4:c.70959C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Tibial muscular dystrophy (TMD)
Synonyms:
Distal myopathy Markesbery-Griggs type; UDD Myopathy; Tibial muscular dystrophy, tardive; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010870; MedGen: C1838244; Orphanet: 609; OMIM: 600334

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002101760Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benign
(Sep 10, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot 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 Genome-Nilou Lab, SCV002101760.1

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

Last Updated: Nov 24, 2024