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NM_001018005.2(TPM1):c.148C>A (p.Leu50Ile) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 25, 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:
RCV004022678.1

Allele description [Variation Report for NM_001018005.2(TPM1):c.148C>A (p.Leu50Ile)]

NM_001018005.2(TPM1):c.148C>A (p.Leu50Ile)

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.148C>A (p.Leu50Ile)
HGVS:
  • NC_000015.10:g.63044060C>A
  • NG_007557.1:g.6422C>A
  • NM_000366.6:c.148C>A
  • NM_001018004.2:c.148C>A
  • NM_001018005.2:c.148C>AMANE SELECT
  • NM_001018006.2:c.148C>A
  • NM_001018007.2:c.240+229C>A
  • NM_001018020.2:c.240+229C>A
  • NM_001301244.2:c.240+229C>A
  • NM_001365776.1:c.148C>A
  • NM_001365777.1:c.148C>A
  • NM_001365778.1:c.274C>A
  • NM_001365779.1:c.148C>A
  • NP_000357.3:p.Leu50Ile
  • NP_001018004.1:p.Leu50Ile
  • NP_001018005.1:p.Leu50Ile
  • NP_001018006.1:p.Leu50Ile
  • NP_001352705.1:p.Leu50Ile
  • NP_001352706.1:p.Leu50Ile
  • NP_001352707.1:p.Leu92Ile
  • NP_001352708.1:p.Leu50Ile
  • LRG_387t1:c.148C>A
  • LRG_387:g.6422C>A
  • LRG_387p1:p.Leu50Ile
  • NC_000015.9:g.63336259C>A
  • NM_001018005.1:c.148C>A
Protein change:
L50I
Links:
dbSNP: rs1060501866
NCBI 1000 Genomes Browser:
rs1060501866
Molecular consequence:
  • NM_001018007.2:c.240+229C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001018020.2:c.240+229C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001301244.2:c.240+229C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000366.6:c.148C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018004.2:c.148C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018005.2:c.148C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018006.2:c.148C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365776.1:c.148C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365777.1:c.148C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365778.1:c.274C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365779.1:c.148C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV005036948Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Dec 25, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005036948.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.L50I variant (also known as c.148C>A), located in coding exon 2 of the TPM1 gene, results from a C to A substitution at nucleotide position 148. The leucine at codon 50 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024