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NM_001747.4(CAPG):c.454G>T (p.Glu152Ter) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000845084.1

Allele description [Variation Report for NM_001747.4(CAPG):c.454G>T (p.Glu152Ter)]

NM_001747.4(CAPG):c.454G>T (p.Glu152Ter)

Gene:
CAPG:capping actin protein, gelsolin like [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p11.2
Genomic location:
Preferred name:
NM_001747.4(CAPG):c.454G>T (p.Glu152Ter)
HGVS:
  • NC_000002.12:g.85401227C>A
  • NM_001256139.2:c.454G>T
  • NM_001256140.2:c.454G>T
  • NM_001320732.2:c.454G>T
  • NM_001320733.2:c.454G>T
  • NM_001320734.2:c.454G>T
  • NM_001747.4:c.454G>TMANE SELECT
  • NP_001243068.1:p.Glu152Ter
  • NP_001243068.1:p.Glu152Ter
  • NP_001243069.1:p.Glu152Ter
  • NP_001307661.1:p.Glu152Ter
  • NP_001307662.1:p.Glu152Ter
  • NP_001307663.1:p.Glu152Ter
  • NP_001738.2:p.Glu152Ter
  • NC_000002.11:g.85628350C>A
  • NM_001256139.1:c.454G>T
Protein change:
E152*
Links:
dbSNP: rs142762000
NCBI 1000 Genomes Browser:
rs142762000
Molecular consequence:
  • NM_001256139.2:c.454G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001256140.2:c.454G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001320732.2:c.454G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001320733.2:c.454G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001320734.2:c.454G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001747.4:c.454G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000986933GenomeConnect, ClinGen
no classification provided
not providedmaternalphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000986933.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpretted as Uncertain significance and reported on 07/26/2017 by GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Apr 23, 2022