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NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 21, 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:
RCV001270084.9

Allele description [Variation Report for NM_001267550.2(TTN):c.89386G>A (p.Val29796Met)]

NM_001267550.2(TTN):c.89386G>A (p.Val29796Met)

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.89386G>A (p.Val29796Met)
Other names:
p.V28155M:GTG>ATG
HGVS:
  • NC_000002.12:g.178553619C>T
  • NG_011618.3:g.282184G>A
  • NG_051363.1:g.35793C>T
  • NM_001256850.1:c.84463G>A
  • NM_001267550.2:c.89386G>AMANE SELECT
  • NM_003319.4:c.62191G>A
  • NM_133378.4:c.81682G>A
  • NM_133432.3:c.62566G>A
  • NM_133437.4:c.62767G>A
  • NP_001243779.1:p.Val28155Met
  • NP_001254479.2:p.Val29796Met
  • NP_003310.4:p.Val20731Met
  • NP_596869.4:p.Val27228Met
  • NP_596869.4:p.Val27228Met
  • NP_597676.3:p.Val20856Met
  • NP_597681.4:p.Val20923Met
  • LRG_391:g.282184G>A
  • NC_000002.11:g.179418346C>T
Protein change:
V20731M
Links:
dbSNP: rs72648237
NCBI 1000 Genomes Browser:
rs72648237
Molecular consequence:
  • NM_001256850.1:c.84463G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.89386G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.62191G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.81682G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.62566G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.62767G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Short stature
Identifiers:
MedGen: C0349588; Human Phenotype Ontology: HP:0004322
Name:
Failure to thrive
Synonyms:
Pediatric failure to thrive
Identifiers:
MedGen: C2315100; Human Phenotype Ontology: HP:0001508
Name:
Generalized muscle weakness
Identifiers:
MedGen: C0746674; Human Phenotype Ontology: HP:0003324
Name:
Delayed speech and language development
Identifiers:
MedGen: C0454644; Human Phenotype Ontology: HP:0000750
Name:
Abnormal speech pattern
Synonyms:
Neurological speech impairment; Speech impairment
Identifiers:
MedGen: C3687424; Human Phenotype Ontology: HP:0002167
Name:
Abnormality of the immune system
Identifiers:
MedGen: C4021753; Human Phenotype Ontology: HP:0002715
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
SCV001448890Knight Diagnostic Laboratories, Oregon Health and Sciences University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Mar 21, 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, SCV001448890.1

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

Last Updated: Jan 19, 2025