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NM_001018005.2(TPM1):c.388A>G (p.Ile130Val) AND Pulmonary atresia with intact ventricular septum

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000491526.1

Allele description [Variation Report for NM_001018005.2(TPM1):c.388A>G (p.Ile130Val)]

NM_001018005.2(TPM1):c.388A>G (p.Ile130Val)

Gene:
TPM1:tropomyosin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q22.2
Genomic location:
Preferred name:
NM_001018005.2(TPM1):c.388A>G (p.Ile130Val)
Other names:
TPM1
HGVS:
  • NC_000015.10:g.63059576A>G
  • NG_007557.1:g.21938A>G
  • NM_000366.6:c.388A>G
  • NM_001018004.2:c.388A>G
  • NM_001018005.2:c.388A>GMANE SELECT
  • NM_001018006.2:c.388A>G
  • NM_001018007.2:c.388A>G
  • NM_001018008.2:c.280A>G
  • NM_001018020.2:c.388A>G
  • NM_001301244.2:c.388A>G
  • NM_001301289.2:c.280A>G
  • NM_001330344.2:c.280A>G
  • NM_001330346.2:c.280A>G
  • NM_001330351.2:c.280A>G
  • NM_001365776.1:c.388A>G
  • NM_001365777.1:c.388A>G
  • NM_001365778.1:c.514A>G
  • NM_001365779.1:c.388A>G
  • NM_001365780.1:c.280A>G
  • NM_001365781.2:c.280A>G
  • NM_001365782.1:c.280A>G
  • NP_000357.3:p.Ile130Val
  • NP_001018004.1:p.Ile130Val
  • NP_001018005.1:p.Ile130Val
  • NP_001018006.1:p.Ile130Val
  • NP_001018007.1:p.Ile130Val
  • NP_001018008.1:p.Ile94Val
  • NP_001018020.1:p.Ile130Val
  • NP_001288173.1:p.Ile130Val
  • NP_001288218.1:p.Ile94Val
  • NP_001317273.1:p.Ile94Val
  • NP_001317275.1:p.Ile94Val
  • NP_001317280.1:p.Ile94Val
  • NP_001352705.1:p.Ile130Val
  • NP_001352706.1:p.Ile130Val
  • NP_001352707.1:p.Ile172Val
  • NP_001352708.1:p.Ile130Val
  • NP_001352709.1:p.Ile94Val
  • NP_001352710.1:p.Ile94Val
  • NP_001352711.1:p.Ile94Val
  • LRG_387t1:c.388A>G
  • LRG_387:g.21938A>G
  • LRG_387p1:p.Ile130Val
  • NC_000015.9:g.63351775A>G
  • NM_000366.5:c.388A>G
  • NM_000366.5:c.579A>G
Protein change:
I130V
Links:
dbSNP: rs1114167355
NCBI 1000 Genomes Browser:
rs1114167355
Molecular consequence:
  • NM_000366.6:c.388A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018004.2:c.388A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018005.2:c.388A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018006.2:c.388A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018007.2:c.388A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018008.2:c.280A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018020.2:c.388A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301244.2:c.388A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301289.2:c.280A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330344.2:c.280A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330346.2:c.280A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330351.2:c.280A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365776.1:c.388A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365777.1:c.388A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365778.1:c.514A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365779.1:c.388A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365780.1:c.280A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365781.2:c.280A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365782.1:c.280A>G - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
effect on protein subcellular localization [Variation Ontology: 0033]

Condition(s)

Name:
Pulmonary atresia with intact ventricular septum
Synonyms:
Pulmonary atresia-intact ventricular septum syndrome
Identifiers:
MONDO: MONDO:0009931; MedGen: C0344975; Orphanet: 1208; OMIM: 265150

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000321070Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez - TPM1 mutations in CHD
no assertion criteria provided
Likely pathogenicnot applicableresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot applicablenot applicablenot providednot providednot providednot providednot providedresearch

Citations

PubMed

Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects.

England J, Granados-Riveron J, Polo-Parada L, Kuriakose D, Moore C, Brook JD, Rutland CS, Setchfield K, Gell C, Ghosh TK, Bu'Lock F, Thornborough C, Ehler E, Loughna S.

J Mol Cell Cardiol. 2017 May;106:1-13. doi: 10.1016/j.yjmcc.2017.03.006. Epub 2017 Mar 27.

PubMed [citation]
PMID:
28359939
PMCID:
PMC5441184

Details of each submission

From Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez - TPM1 mutations in CHD, SCV000321070.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

GFP-tagged mutant I130V fluorescence did not co-localised with troponin T, in contrast with the GFP-tagged wild-type protein

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not applicablenot applicablenot providedchick embryonic heartsnot providednot providednot providednot providednot provided

Last Updated: Feb 18, 2023