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NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 4, 2019
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:
RCV001270046.9

Allele description [Variation Report for NM_001267550.2(TTN):c.30389G>A (p.Arg10130His)]

NM_001267550.2(TTN):c.30389G>A (p.Arg10130His)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His)
Other names:
p.R9813H:CGC>CAC
HGVS:
  • NC_000002.12:g.178702498C>T
  • NG_011618.3:g.133305G>A
  • NM_001256850.1:c.29438G>A
  • NM_001267550.2:c.30389G>AMANE SELECT
  • NM_003319.4:c.13282+35584G>A
  • NM_133378.4:c.26657G>A
  • NM_133432.3:c.13657+35584G>A
  • NM_133437.4:c.13858+35584G>A
  • NP_001243779.1:p.Arg9813His
  • NP_001254479.2:p.Arg10130His
  • NP_596869.4:p.Arg8886His
  • LRG_391t1:c.30389G>A
  • LRG_391:g.133305G>A
  • NC_000002.11:g.179567225C>T
  • NM_001267550.1:c.30389G>A
Protein change:
R10130H
Links:
dbSNP: rs373355159
NCBI 1000 Genomes Browser:
rs373355159
Molecular consequence:
  • NM_003319.4:c.13282+35584G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13657+35584G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13858+35584G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.29438G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.30389G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.26657G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Delayed speech and language development
Identifiers:
MedGen: C0454644; Human Phenotype Ontology: HP:0000750
Name:
Abnormality of eye movement
Identifiers:
MedGen: C0497202; Human Phenotype Ontology: HP:0000496
Name:
Generalized hypotonia
Identifiers:
MedGen: C1858120; Human Phenotype Ontology: HP:0001290
Name:
Abnormality of speech or vocalization
Synonyms:
Neurological speech impairment; Speech disorder; Speech impairment
Identifiers:
MONDO: MONDO:0004730; MedGen: C0037822; Human Phenotype Ontology: HP:0002167
Name:
Delayed gross motor development
Identifiers:
MedGen: C1837658; Human Phenotype Ontology: HP:0002194
Name:
Hypotonia
Synonyms:
Muscular hypotonia; poor muscle tone
Identifiers:
MedGen: C0026827; Human Phenotype Ontology: HP:0001252

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001448777Knight Diagnostic Laboratories, Oregon Health and Sciences University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 4, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not 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 Knight Diagnostic Laboratories, Oregon Health and Sciences University, SCV001448777.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 20, 2024