U.S. flag

An official website of the United States government

NM_001614.5(ACTG1):c.954C>T (p.Thr318=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 12, 2015
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:
RCV000219404.4

Allele description [Variation Report for NM_001614.5(ACTG1):c.954C>T (p.Thr318=)]

NM_001614.5(ACTG1):c.954C>T (p.Thr318=)

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.954C>T (p.Thr318=)
HGVS:
  • NC_000017.11:g.81510957G>A
  • NG_011433.1:g.6845C>T
  • NM_001199954.3:c.954C>T
  • NM_001614.5:c.954C>TMANE SELECT
  • NP_001186883.1:p.Thr318=
  • NP_001605.1:p.Thr318=
  • NC_000017.10:g.79477983G>A
  • NM_001199954.1:c.954C>T
  • NM_001614.3:c.954C>T
  • NR_037688.3:n.1026C>T
  • p.Thr318Thr
Links:
dbSNP: rs3211110
NCBI 1000 Genomes Browser:
rs3211110
Molecular consequence:
  • NR_037688.3:n.1026C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001199954.3:c.954C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001614.5:c.954C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000269978Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Likely benign
(Feb 12, 2015)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not 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, SCV000269978.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

p.Thr318Thr in exon 5 of ACTG1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.2% (18/8644) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs3211110).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Mar 5, 2024