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NM_001018005.2(TPM1):c.1A>G (p.Met1Val) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 3, 2019
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:
RCV001754864.2

Allele description [Variation Report for NM_001018005.2(TPM1):c.1A>G (p.Met1Val)]

NM_001018005.2(TPM1):c.1A>G (p.Met1Val)

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.1A>G (p.Met1Val)
HGVS:
  • NC_000015.10:g.63042830A>G
  • NG_007557.1:g.5192A>G
  • NM_000366.6:c.1A>G
  • NM_001018004.2:c.1A>G
  • NM_001018005.2:c.1A>GMANE SELECT
  • NM_001018006.2:c.1A>G
  • NM_001018007.2:c.1A>G
  • NM_001018020.2:c.1A>G
  • NM_001301244.2:c.1A>G
  • NM_001365776.1:c.1A>G
  • NM_001365777.1:c.1A>G
  • NM_001365778.1:c.1A>G
  • NM_001365779.1:c.1A>G
  • NP_000357.3:p.Met1Val
  • NP_001018004.1:p.Met1Val
  • NP_001018005.1:p.Met1Val
  • NP_001018006.1:p.Met1Val
  • NP_001018007.1:p.Met1Val
  • NP_001018020.1:p.Met1Val
  • NP_001288173.1:p.Met1Val
  • NP_001352705.1:p.Met1Val
  • NP_001352706.1:p.Met1Val
  • NP_001352707.1:p.Met1Val
  • NP_001352708.1:p.Met1Val
  • LRG_387t1:c.1A>G
  • LRG_387:g.5192A>G
  • LRG_387p1:p.Met1Val
  • NC_000015.9:g.63335029A>G
  • NM_001018005.1:c.1A>G
Protein change:
M1V
Links:
dbSNP: rs367543668
NCBI 1000 Genomes Browser:
rs367543668
Molecular consequence:
  • NM_000366.6:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001018004.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001018005.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001018006.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001018007.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001018020.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001301244.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001365776.1:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001365777.1:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001365778.1:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001365779.1:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_000366.6:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018004.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018005.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018006.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018007.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018020.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301244.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365776.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365777.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365778.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365779.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001996498GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Oct 3, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001996498.3

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); Alters the initiator methionine codon, and the resultant protein would be described as "p.Met1?" using a question mark to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if an abnormal protein is produced using an alternate methionine; Initiation codon variant in a gene for which loss-of-function is not a known mechanism of disease; Another variant that affects in the initiator methionine codon (c.2delT) has been reported in an individual referred for DCM genetic testing (Walsh et al., 2017); however, the pathogenicity of this variant has not been definitively determined

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

Last Updated: May 7, 2024