U.S. flag

An official website of the United States government

NM_001018005.2(TPM1):c.713G>A (p.Arg238Gln) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 11, 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:
RCV002224058.1

Allele description [Variation Report for NM_001018005.2(TPM1):c.713G>A (p.Arg238Gln)]

NM_001018005.2(TPM1):c.713G>A (p.Arg238Gln)

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.713G>A (p.Arg238Gln)
HGVS:
  • NC_000015.10:g.63062586G>A
  • NG_007557.1:g.24948G>A
  • NM_000366.6:c.713G>A
  • NM_001018004.2:c.713G>A
  • NM_001018005.2:c.713G>AMANE SELECT
  • NM_001018006.2:c.713G>A
  • NM_001018007.2:c.713G>A
  • NM_001018008.2:c.605G>A
  • NM_001018020.2:c.713G>A
  • NM_001301244.2:c.713G>A
  • NM_001301289.2:c.605G>A
  • NM_001330344.2:c.605G>A
  • NM_001330346.2:c.605G>A
  • NM_001330351.2:c.605G>A
  • NM_001365776.1:c.713G>A
  • NM_001365777.1:c.713G>A
  • NM_001365778.1:c.839G>A
  • NM_001365779.1:c.713G>A
  • NM_001365780.1:c.605G>A
  • NM_001365781.2:c.605G>A
  • NM_001365782.1:c.605G>A
  • NP_000357.3:p.Arg238Gln
  • NP_001018004.1:p.Arg238Gln
  • NP_001018005.1:p.Arg238Gln
  • NP_001018006.1:p.Arg238Gln
  • NP_001018007.1:p.Arg238Gln
  • NP_001018008.1:p.Arg202Gln
  • NP_001018020.1:p.Arg238Gln
  • NP_001288173.1:p.Arg238Gln
  • NP_001288218.1:p.Arg202Gln
  • NP_001317273.1:p.Arg202Gln
  • NP_001317275.1:p.Arg202Gln
  • NP_001317280.1:p.Arg202Gln
  • NP_001352705.1:p.Arg238Gln
  • NP_001352706.1:p.Arg238Gln
  • NP_001352707.1:p.Arg280Gln
  • NP_001352708.1:p.Arg238Gln
  • NP_001352709.1:p.Arg202Gln
  • NP_001352710.1:p.Arg202Gln
  • NP_001352711.1:p.Arg202Gln
  • LRG_387t1:c.713G>A
  • LRG_387:g.24948G>A
  • LRG_387p1:p.Arg238Gln
  • NC_000015.9:g.63354785G>A
Protein change:
R202Q
Links:
dbSNP: rs777716347
NCBI 1000 Genomes Browser:
rs777716347
Molecular consequence:
  • NM_000366.6:c.713G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018004.2:c.713G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018005.2:c.713G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018006.2:c.713G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018007.2:c.713G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018008.2:c.605G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018020.2:c.713G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301244.2:c.713G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301289.2:c.605G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330344.2:c.605G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330346.2:c.605G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330351.2:c.605G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365776.1:c.713G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365777.1:c.713G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365778.1:c.839G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365779.1:c.713G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365780.1:c.605G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365781.2:c.605G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365782.1:c.605G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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
SCV002502331AiLife Diagnostics, AiLife Diagnostics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Sep 11, 2021) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

A Wide and Specific Spectrum of Genetic Variants and Genotype-Phenotype Correlations Revealed by Next-Generation Sequencing in Patients with Left Ventricular Noncompaction.

Wang C, Hata Y, Hirono K, Takasaki A, Ozawa SW, Nakaoka H, Saito K, Miyao N, Okabe M, Ibuki K, Nishida N, Origasa H, Yu X, Bowles NE, Ichida F; for LVNC Study Collaborators..

J Am Heart Assoc. 2017 Aug 30;6(9). doi:pii: e006210. 10.1161/JAHA.117.006210.

PubMed [citation]
PMID:
28855170
PMCID:
PMC5634278

Increased Burden of Ion Channel Gene Variants Is Related to Distinct Phenotypes in Pediatric Patients With Left Ventricular Noncompaction.

Hirono K, Hata Y, Miyao N, Okabe M, Takarada S, Nakaoka H, Ibuki K, Ozawa S, Origasa H, Nishida N, Ichida F; LVNC study collaborates*..

Circ Genom Precis Med. 2020 Aug;13(4):e002940. doi: 10.1161/CIRCGEN.119.002940. Epub 2020 Jun 29.

PubMed [citation]
PMID:
32600061
See all PubMed Citations (4)

Details of each submission

From AiLife Diagnostics, AiLife Diagnostics, SCV002502331.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024