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NM_001267550.2(TTN):c.5697C>T (p.Ile1899=) AND Autosomal recessive limb-girdle muscular dystrophy type 2J

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:
RCV001839669.3

Allele description [Variation Report for NM_001267550.2(TTN):c.5697C>T (p.Ile1899=)]

NM_001267550.2(TTN):c.5697C>T (p.Ile1899=)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.5697C>T (p.Ile1899=)
HGVS:
  • NC_000002.12:g.178776167G>A
  • NG_011618.3:g.59636C>T
  • NM_001256850.1:c.5697C>T
  • NM_001267550.2:c.5697C>TMANE SELECT
  • NM_003319.4:c.5559C>T
  • NM_133378.4:c.5697C>T
  • NM_133379.5:c.5697C>T
  • NM_133432.3:c.5559C>T
  • NM_133437.4:c.5559C>T
  • NP_001243779.1:p.Ile1899=
  • NP_001254479.2:p.Ile1899=
  • NP_003310.4:p.Ile1853=
  • NP_596869.4:p.Ile1899=
  • NP_596870.2:p.Ile1899=
  • NP_597676.3:p.Ile1853=
  • NP_597681.4:p.Ile1853=
  • LRG_391:g.59636C>T
  • NC_000002.11:g.179640894G>A
  • c.5697C>T
  • p.Ile1899Ile
Links:
dbSNP: rs148434577
NCBI 1000 Genomes Browser:
rs148434577
Molecular consequence:
  • NM_001256850.1:c.5697C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001267550.2:c.5697C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003319.4:c.5559C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133378.4:c.5697C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133379.5:c.5697C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133432.3:c.5559C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133437.4:c.5559C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMDR10)
Synonyms:
Limb-girdle muscular dystrophy, type 2J; 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
SCV002101470Genome-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, SCV002101470.1

#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: Oct 20, 2024