U.S. flag

An official website of the United States government

NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 31, 2018
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:
RCV000765584.3

Allele description [Variation Report for NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu)]

NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu)
Other names:
p.K9432E:AAG>GAG
HGVS:
  • NC_000002.12:g.178689122T>C
  • NG_011618.3:g.146681A>G
  • NM_001256850.1:c.31075A>G
  • NM_001267550.2:c.32026A>GMANE SELECT
  • NM_003319.4:c.13283-46805A>G
  • NM_133378.4:c.28294A>G
  • NM_133432.3:c.13658-46805A>G
  • NM_133437.4:c.13859-46805A>G
  • NP_001243779.1:p.Lys10359Glu
  • NP_001254479.2:p.Lys10676Glu
  • NP_596869.4:p.Lys9432Glu
  • LRG_391:g.146681A>G
  • NC_000002.11:g.179553849T>C
  • NM_001256850.1:c.31075A>G
  • NM_001267550.1:c.32026A>G
Protein change:
K10359E
Links:
dbSNP: rs200952728
NCBI 1000 Genomes Browser:
rs200952728
Molecular consequence:
  • NM_003319.4:c.13283-46805A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13658-46805A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13859-46805A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.31075A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.32026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.28294A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dilated cardiomyopathy 1G (CMD1G)
Identifiers:
MONDO: MONDO:0011400; MedGen: C1858763; Orphanet: 154; OMIM: 604145
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
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
Name:
Myopathy, myofibrillar, 9, with early respiratory failure (MFM9)
Synonyms:
EDSTROM MYOPATHY; MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT; Hereditary myopathy with early respiratory failure; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011362; MedGen: C1863599; Orphanet: 178464; Orphanet: 34521; OMIM: 603689
Name:
Early-onset myopathy with fatal cardiomyopathy (CMYO5)
Synonyms:
CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY; Salih Myopathy
Identifiers:
MONDO: MONDO:0012714; MedGen: C2673677; Orphanet: 289377; OMIM: 611705
Name:
Hypertrophic cardiomyopathy 9
Synonyms:
Familial hypertrophic cardiomyopathy 9
Identifiers:
MONDO: MONDO:0013412; MedGen: C1861065; OMIM: 613765

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000896899Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 31, 2018) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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
PMC

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.

Genetics in medicine : official journal of the American College of Medical Genetics. 2015 Mar 5; 17(5): 405-424

PMC [article]
PMCID:
PMC4544753
PMID:
25741868
DOI:
10.1038/gim.2015.30

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV000896899.1

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

Last Updated: Oct 20, 2024