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NM_001018005.2(TPM1):c.24_25delinsAA (p.Met8_Gln9delinsIleLys) AND Hypertrophic cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 16, 2023
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:
RCV003747719.2

Allele description [Variation Report for NM_001018005.2(TPM1):c.24_25delinsAA (p.Met8_Gln9delinsIleLys)]

NM_001018005.2(TPM1):c.24_25delinsAA (p.Met8_Gln9delinsIleLys)

Gene:
TPM1:tropomyosin 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
15q22.2
Genomic location:
Preferred name:
NM_001018005.2(TPM1):c.24_25delinsAA (p.Met8_Gln9delinsIleLys)
HGVS:
  • NC_000015.10:g.63042853_63042854delinsAA
  • NG_007557.1:g.5215_5216delinsAA
  • NM_000366.6:c.24_25delinsAA
  • NM_001018004.2:c.24_25delinsAA
  • NM_001018005.2:c.24_25delinsAAMANE SELECT
  • NM_001018006.2:c.24_25delinsAA
  • NM_001018007.2:c.24_25delinsAA
  • NM_001018020.2:c.24_25delinsAA
  • NM_001301244.2:c.24_25delinsAA
  • NM_001365776.1:c.24_25delinsAA
  • NM_001365777.1:c.24_25delinsAA
  • NM_001365778.1:c.24_25delinsAA
  • NM_001365779.1:c.24_25delinsAA
  • NM_001407322.1:c.24_25delinsAA
  • NM_001407323.1:c.24_25delinsAA
  • NM_001407324.1:c.24_25delinsAA
  • NM_001407325.1:c.24_25delinsAA
  • NM_001407326.1:c.24_25delinsAA
  • NM_001407327.1:c.24_25delinsAA
  • NM_001407328.1:c.24_25delinsAA
  • NM_001407329.1:c.24_25delinsAA
  • NM_001407330.1:c.24_25delinsAA
  • NM_001407331.1:c.24_25delinsAA
  • NM_001407332.1:c.24_25delinsAA
  • NM_001407333.1:c.24_25delinsAA
  • NM_001407334.1:c.24_25delinsAA
  • NM_001407335.1:c.24_25delinsAA
  • NM_001407336.1:c.24_25delinsAA
  • NM_001407337.1:c.24_25delinsAA
  • NM_001407338.1:c.24_25delinsAA
  • NP_000357.3:p.Met8_Gln9delinsIleLys
  • NP_001018004.1:p.Met8_Gln9delinsIleLys
  • NP_001018005.1:p.Met8_Gln9delinsIleLys
  • NP_001018006.1:p.Met8_Gln9delinsIleLys
  • NP_001018007.1:p.Met8_Gln9delinsIleLys
  • NP_001018020.1:p.Met8_Gln9delinsIleLys
  • NP_001288173.1:p.Met8_Gln9delinsIleLys
  • NP_001352705.1:p.Met8_Gln9delinsIleLys
  • NP_001352706.1:p.Met8_Gln9delinsIleLys
  • NP_001352707.1:p.Met8_Gln9delinsIleLys
  • NP_001352708.1:p.Met8_Gln9delinsIleLys
  • NP_001394251.1:p.Met8_Gln9delinsIleLys
  • NP_001394252.1:p.Met8_Gln9delinsIleLys
  • NP_001394253.1:p.Met8_Gln9delinsIleLys
  • NP_001394254.1:p.Met8_Gln9delinsIleLys
  • NP_001394255.1:p.Met8_Gln9delinsIleLys
  • NP_001394256.1:p.Met8_Gln9delinsIleLys
  • NP_001394257.1:p.Met8_Gln9delinsIleLys
  • NP_001394258.1:p.Met8_Gln9delinsIleLys
  • NP_001394259.1:p.Met8_Gln9delinsIleLys
  • NP_001394260.1:p.Met8_Gln9delinsIleLys
  • NP_001394261.1:p.Met8_Gln9delinsIleLys
  • NP_001394262.1:p.Met8_Gln9delinsIleLys
  • NP_001394263.1:p.Met8_Gln9delinsIleLys
  • NP_001394264.1:p.Met8_Gln9delinsIleLys
  • NP_001394265.1:p.Met8_Gln9delinsIleLys
  • NP_001394266.1:p.Met8_Gln9delinsIleLys
  • NP_001394267.1:p.Met8_Gln9delinsIleLys
  • LRG_387t1:c.24_25delinsAA
  • LRG_387:g.5215_5216delinsAA
  • LRG_387p1:p.Met8_Gln9delinsIleLys
  • NC_000015.9:g.63335052_63335053delinsAA
  • NR_176337.1:n.107_108delinsAA
  • NR_176338.1:n.107_108delinsAA
  • NR_176339.1:n.107_108delinsAA
  • NR_176340.1:n.107_108delinsAA
  • NR_176341.1:n.107_108delinsAA
  • NR_176342.1:n.107_108delinsAA
  • NR_176343.1:n.107_108delinsAA
  • NR_176344.1:n.107_108delinsAA
  • NR_176345.1:n.107_108delinsAA
  • NR_176346.1:n.107_108delinsAA
  • NR_176347.1:n.107_108delinsAA
Molecular consequence:
  • NM_000366.6:c.24_25delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018004.2:c.24_25delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018005.2:c.24_25delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018006.2:c.24_25delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018007.2:c.24_25delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018020.2:c.24_25delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301244.2:c.24_25delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365776.1:c.24_25delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365777.1:c.24_25delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365778.1:c.24_25delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365779.1:c.24_25delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407322.1:c.24_25delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407323.1:c.24_25delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407324.1:c.24_25delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407325.1:c.24_25delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407326.1:c.24_25delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407327.1:c.24_25delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407328.1:c.24_25delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407329.1:c.24_25delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407330.1:c.24_25delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407331.1:c.24_25delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407332.1:c.24_25delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407333.1:c.24_25delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407334.1:c.24_25delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407335.1:c.24_25delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407336.1:c.24_25delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407337.1:c.24_25delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407338.1:c.24_25delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NR_176337.1:n.107_108delinsAA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176338.1:n.107_108delinsAA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176339.1:n.107_108delinsAA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176340.1:n.107_108delinsAA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176341.1:n.107_108delinsAA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176342.1:n.107_108delinsAA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176343.1:n.107_108delinsAA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176344.1:n.107_108delinsAA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176345.1:n.107_108delinsAA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176346.1:n.107_108delinsAA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176347.1:n.107_108delinsAA - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hypertrophic cardiomyopathy
Synonyms:
HYPERTROPHIC MYOCARDIOPATHY
Identifiers:
MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004453978Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Apr 16, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Genetic testing for dilated cardiomyopathy in clinical practice.

Lakdawala NK, Funke BH, Baxter S, Cirino AL, Roberts AE, Judge DP, Johnson N, Mendelsohn NJ, Morel C, Care M, Chung WK, Jones C, Psychogios A, Duffy E, Rehm HL, White E, Seidman JG, Seidman CE, Ho CY.

J Card Fail. 2012 Apr;18(4):296-303. doi: 10.1016/j.cardfail.2012.01.013. Epub 2012 Feb 15.

PubMed [citation]
PMID:
22464770
PMCID:
PMC3666099

M8R tropomyosin mutation disrupts actin binding and filament regulation: The beginning affects the middle and end.

Racca AW, Rynkiewicz MJ, LaFave N, Ghosh A, Lehman W, Moore JR.

J Biol Chem. 2020 Dec 11;295(50):17128-17137. doi: 10.1074/jbc.RA120.014713. Epub 2020 Oct 5.

PubMed [citation]
PMID:
33020181
PMCID:
PMC7863880
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004453978.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant disrupts the p.Met8 amino acid residue in TPM1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 22464770, 33020181). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with TPM1-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant, c.24_25delinsAA, is a complex sequence change that results in the deletion of 2 and insertion of 2 amino acid(s) in the TPM1 protein (p.Met8_Gln9delinsIleLys).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024