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NM_001018005.2(TPM1):c.27G>A (p.Gln9=) AND not specified

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Sep 20, 2013
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:
RCV000036323.8

Allele description [Variation Report for NM_001018005.2(TPM1):c.27G>A (p.Gln9=)]

NM_001018005.2(TPM1):c.27G>A (p.Gln9=)

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.27G>A (p.Gln9=)
HGVS:
  • NC_000015.10:g.63042856G>A
  • NG_007557.1:g.5218G>A
  • NM_000366.6:c.27G>A
  • NM_001018004.2:c.27G>A
  • NM_001018005.2:c.27G>AMANE SELECT
  • NM_001018006.2:c.27G>A
  • NM_001018007.2:c.27G>A
  • NM_001018020.2:c.27G>A
  • NM_001301244.2:c.27G>A
  • NM_001365776.1:c.27G>A
  • NM_001365777.1:c.27G>A
  • NM_001365778.1:c.27G>A
  • NM_001365779.1:c.27G>A
  • NP_000357.3:p.Gln9=
  • NP_001018004.1:p.Gln9=
  • NP_001018005.1:p.Gln9=
  • NP_001018006.1:p.Gln9=
  • NP_001018007.1:p.Gln9=
  • NP_001018020.1:p.Gln9=
  • NP_001288173.1:p.Gln9=
  • NP_001352705.1:p.Gln9=
  • NP_001352706.1:p.Gln9=
  • NP_001352707.1:p.Gln9=
  • NP_001352708.1:p.Gln9=
  • LRG_387t1:c.27G>A
  • LRG_387:g.5218G>A
  • LRG_387p1:p.Gln9=
  • NC_000015.9:g.63335055G>A
  • NM_000366.5:c.27G>A
  • NM_001018005.1:c.27G>A
  • c.27G>A
  • p.Gln9Gln
Links:
dbSNP: rs397516365
NCBI 1000 Genomes Browser:
rs397516365
Molecular consequence:
  • NM_000366.6:c.27G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001018004.2:c.27G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001018005.2:c.27G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001018006.2:c.27G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001018007.2:c.27G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001018020.2:c.27G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001301244.2:c.27G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001365776.1:c.27G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001365777.1:c.27G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001365778.1:c.27G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001365779.1:c.27G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
3

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000059975Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Likely benign
(Sep 20, 2013)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001921168Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided33not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000059975.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)

Description

Gln9Gln in exon 1 of TPM1: This variant is not expected to have clinical signifi cance because it does not alter an amino acid residue and is not located within the splice consensus sequence. Gln9Gln in exon 1 of TPM1 (allele frequency = n/ a)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided3not provided3not provided

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001921168.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 20, 2024