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NM_001267550.2(TTN):c.35921T>C (p.Met11974Thr) AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 31, 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:
RCV002252608.2

Allele description [Variation Report for NM_001267550.2(TTN):c.35921T>C (p.Met11974Thr)]

NM_001267550.2(TTN):c.35921T>C (p.Met11974Thr)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.35921T>C (p.Met11974Thr)
HGVS:
  • NC_000002.12:g.178665746A>G
  • NG_011618.3:g.170057T>C
  • NM_001256850.1:c.34265-2691T>C
  • NM_001267550.2:c.35921T>CMANE SELECT
  • NM_003319.4:c.13283-23429T>C
  • NM_133378.4:c.31484-2691T>C
  • NM_133432.3:c.13658-23429T>C
  • NM_133437.4:c.13859-23429T>C
  • NP_001254479.2:p.Met11974Thr
  • LRG_391:g.170057T>C
  • NC_000002.11:g.179530473A>G
Protein change:
M11974T
Links:
dbSNP: rs535815566
NCBI 1000 Genomes Browser:
rs535815566
Molecular consequence:
  • NM_001256850.1:c.34265-2691T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003319.4:c.13283-23429T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133378.4:c.31484-2691T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13658-23429T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13859-23429T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001267550.2:c.35921T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002523950Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 31, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002523950.1

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

Last Updated: Jul 29, 2024