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NM_001614.5(ACTG1):c.-5T>C AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 9, 2018
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:
RCV000681277.1

Allele description [Variation Report for NM_001614.5(ACTG1):c.-5T>C]

NM_001614.5(ACTG1):c.-5T>C

Gene:
ACTG1:actin gamma 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_001614.5(ACTG1):c.-5T>C
HGVS:
  • NC_000017.11:g.81512359A>G
  • NG_011433.1:g.5443T>C
  • NM_001199954.3:c.-5T>C
  • NM_001614.5:c.-5T>CMANE SELECT
  • NC_000017.10:g.79479385A>G
  • NM_001614.3:c.-5T>C
  • NR_037688.3:n.68T>C
Links:
dbSNP: rs782246678
NCBI 1000 Genomes Browser:
rs782246678
Molecular consequence:
  • NM_001199954.3:c.-5T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001614.5:c.-5T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NR_037688.3:n.68T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

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  • Facklamia hominis strain:the pus culture isolating from Breast abscess of a 40-y...
    Facklamia hominis strain:the pus culture isolating from Breast abscess of a 40-year-old female | isolate:the pus culture isolating from Breast abscess of a 40-year-old female
    Facklamia hominis strain:the pus culture isolating from Breast abscess of a 40-year-old female | isolate:the pus culture isolating from Breast abscess of a 40-year-old female Genome sequencing
    BioProject
  • 201400 (1)
    OMIM
  • Cardia
    Cardia
    That part of the STOMACH close to the opening from ESOPHAGUS into the stomach (cardiac orifice), the ESOPHAGOGASTRIC JUNCTION. The cardia is so named because of its closeness ...<br/>
    MeSH
  • Esophagogastric Junction
    Esophagogastric Junction
    The area covering the terminal portion of ESOPHAGUS and the beginning of STOMACH at the cardiac orifice.<br/>Year introduced: 1966(1964)
    MeSH

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000808739GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(May 9, 2018) 		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, SCV000808739.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Apr 23, 2022