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NM_001018005.2(TPM1):c.83A>C (p.Asp28Ala) AND Hypertrophic cardiomyopathy 3

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 19, 2023
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:
RCV003323328.1

Allele description [Variation Report for NM_001018005.2(TPM1):c.83A>C (p.Asp28Ala)]

NM_001018005.2(TPM1):c.83A>C (p.Asp28Ala)

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.83A>C (p.Asp28Ala)
HGVS:
  • NC_000015.10:g.63042912A>C
  • NG_007557.1:g.5274A>C
  • NM_000366.6:c.83A>C
  • NM_001018004.2:c.83A>C
  • NM_001018005.2:c.83A>CMANE SELECT
  • NM_001018006.2:c.83A>C
  • NM_001018007.2:c.83A>C
  • NM_001018020.2:c.83A>C
  • NM_001301244.2:c.83A>C
  • NM_001365776.1:c.83A>C
  • NM_001365777.1:c.83A>C
  • NM_001365778.1:c.83A>C
  • NM_001365779.1:c.83A>C
  • NM_001407322.1:c.83A>C
  • NM_001407323.1:c.83A>C
  • NM_001407324.1:c.83A>C
  • NM_001407325.1:c.83A>C
  • NM_001407326.1:c.83A>C
  • NM_001407327.1:c.83A>C
  • NM_001407328.1:c.83A>C
  • NM_001407329.1:c.83A>C
  • NM_001407330.1:c.83A>C
  • NM_001407331.1:c.83A>C
  • NM_001407332.1:c.83A>C
  • NM_001407333.1:c.83A>C
  • NM_001407334.1:c.83A>C
  • NM_001407335.1:c.83A>C
  • NM_001407336.1:c.83A>C
  • NM_001407337.1:c.83A>C
  • NM_001407338.1:c.83A>C
  • NP_000357.3:p.Asp28Ala
  • NP_001018004.1:p.Asp28Ala
  • NP_001018005.1:p.Asp28Ala
  • NP_001018006.1:p.Asp28Ala
  • NP_001018007.1:p.Asp28Ala
  • NP_001018020.1:p.Asp28Ala
  • NP_001288173.1:p.Asp28Ala
  • NP_001352705.1:p.Asp28Ala
  • NP_001352706.1:p.Asp28Ala
  • NP_001352707.1:p.Asp28Ala
  • NP_001352708.1:p.Asp28Ala
  • NP_001394251.1:p.Asp28Ala
  • NP_001394252.1:p.Asp28Ala
  • NP_001394253.1:p.Asp28Ala
  • NP_001394254.1:p.Asp28Ala
  • NP_001394255.1:p.Asp28Ala
  • NP_001394256.1:p.Asp28Ala
  • NP_001394257.1:p.Asp28Ala
  • NP_001394258.1:p.Asp28Ala
  • NP_001394259.1:p.Asp28Ala
  • NP_001394260.1:p.Asp28Ala
  • NP_001394261.1:p.Asp28Ala
  • NP_001394262.1:p.Asp28Ala
  • NP_001394263.1:p.Asp28Ala
  • NP_001394264.1:p.Asp28Ala
  • NP_001394265.1:p.Asp28Ala
  • NP_001394266.1:p.Asp28Ala
  • NP_001394267.1:p.Asp28Ala
  • LRG_387t1:c.83A>C
  • LRG_387:g.5274A>C
  • LRG_387p1:p.Asp28Ala
  • NC_000015.9:g.63335111A>C
  • NR_176337.1:n.166A>C
  • NR_176338.1:n.166A>C
  • NR_176339.1:n.166A>C
  • NR_176340.1:n.166A>C
  • NR_176341.1:n.166A>C
  • NR_176342.1:n.166A>C
  • NR_176343.1:n.166A>C
  • NR_176344.1:n.166A>C
  • NR_176345.1:n.166A>C
  • NR_176346.1:n.166A>C
  • NR_176347.1:n.166A>C
Protein change:
D28A
Molecular consequence:
  • NM_000366.6:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018004.2:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018005.2:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018006.2:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018007.2:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018020.2:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301244.2:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365776.1:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365777.1:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365778.1:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365779.1:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407322.1:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407323.1:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407324.1:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407325.1:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407326.1:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407327.1:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407328.1:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407329.1:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407330.1:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407331.1:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407332.1:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407333.1:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407334.1:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407335.1:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407336.1:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407337.1:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407338.1:c.83A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_176337.1:n.166A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176338.1:n.166A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176339.1:n.166A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176340.1:n.166A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176341.1:n.166A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176342.1:n.166A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176343.1:n.166A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176344.1:n.166A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176345.1:n.166A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176346.1:n.166A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176347.1:n.166A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
2

Condition(s)

Name:
Hypertrophic cardiomyopathy 3
Synonyms:
Familial hypertrophic cardiomyopathy 3; TPM1-Related Familial Hypertrophic Cardiomyopathy
Identifiers:
MONDO: MONDO:0007267; MedGen: C1861863; OMIM: 115196

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004028518ICMR Centre for Advanced Research and Excellence in Heart Failure, Sree Chitra Tirunal Institute for Medical Sciences & Technology, KERALA, INDIA
no assertion criteria provided
Uncertain significance
(Mar 19, 2023) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
South Indiangermlineyes2not providednot provided200not providedclinical testing

Details of each submission

From ICMR Centre for Advanced Research and Excellence in Heart Failure, Sree Chitra Tirunal Institute for Medical Sciences & Technology, KERALA, INDIA, SCV004028518.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1South Indian2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes200not providednot provided2not providednot providednot provided

Last Updated: Aug 26, 2023