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NM_001614.5(ACTG1):c.327C>T (p.Pro109=) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 7, 2022
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:
RCV002283248.2

Allele description [Variation Report for NM_001614.5(ACTG1):c.327C>T (p.Pro109=)]

NM_001614.5(ACTG1):c.327C>T (p.Pro109=)

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.327C>T (p.Pro109=)
HGVS:
  • NC_000017.11:g.81511939G>A
  • NG_011433.1:g.5863C>T
  • NG_015964.2:g.1879G>A
  • NM_001199954.3:c.327C>T
  • NM_001614.5:c.327C>TMANE SELECT
  • NP_001186883.1:p.Pro109=
  • NP_001605.1:p.Pro109=
  • NC_000017.10:g.79478965G>A
  • NM_001614.3:c.327C>T
  • NR_037688.3:n.399C>T
Molecular consequence:
  • NR_037688.3:n.399C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001199954.3:c.327C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001614.5:c.327C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002571505GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Mar 7, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV002571505.2

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

Description

In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Apr 15, 2023