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NM_001018005.2(TPM1):c.93G>C (p.Ala31=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 8, 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:
RCV002377609.2

Allele description [Variation Report for NM_001018005.2(TPM1):c.93G>C (p.Ala31=)]

NM_001018005.2(TPM1):c.93G>C (p.Ala31=)

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.93G>C (p.Ala31=)
HGVS:
  • NC_000015.10:g.63042922G>C
  • NG_007557.1:g.5284G>C
  • NM_000366.6:c.93G>C
  • NM_001018004.2:c.93G>C
  • NM_001018005.2:c.93G>CMANE SELECT
  • NM_001018006.2:c.93G>C
  • NM_001018007.2:c.93G>C
  • NM_001018020.2:c.93G>C
  • NM_001301244.2:c.93G>C
  • NM_001365776.1:c.93G>C
  • NM_001365777.1:c.93G>C
  • NM_001365778.1:c.93G>C
  • NM_001365779.1:c.93G>C
  • NP_000357.3:p.Ala31=
  • NP_001018004.1:p.Ala31=
  • NP_001018005.1:p.Ala31=
  • NP_001018006.1:p.Ala31=
  • NP_001018007.1:p.Ala31=
  • NP_001018020.1:p.Ala31=
  • NP_001288173.1:p.Ala31=
  • NP_001352705.1:p.Ala31=
  • NP_001352706.1:p.Ala31=
  • NP_001352707.1:p.Ala31=
  • NP_001352708.1:p.Ala31=
  • LRG_387t1:c.93G>C
  • LRG_387:g.5284G>C
  • LRG_387p1:p.Ala31=
  • NC_000015.9:g.63335121G>C
  • NM_001018005.1:c.93G>C
  • NM_001018005.2:c.93G>C
Links:
dbSNP: rs770661916
NCBI 1000 Genomes Browser:
rs770661916
Molecular consequence:
  • NM_000366.6:c.93G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001018004.2:c.93G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001018005.2:c.93G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001018006.2:c.93G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001018007.2:c.93G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001018020.2:c.93G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001301244.2:c.93G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001365776.1:c.93G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001365777.1:c.93G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001365778.1:c.93G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001365779.1:c.93G>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002687119Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jul 8, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002687119.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024