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NM_001614.5(ACTG1):c.954C>T (p.Thr318=) AND Baraitser-winter syndrome 2

Germline classification:
Benign (1 submission)
Last evaluated:
Dec 5, 2021
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:
RCV002253303.1

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]

Condition(s)

Name:
Baraitser-winter syndrome 2
Identifiers:
MONDO: MONDO:0013812; MedGen: C3281235; Orphanet: 2995; OMIM: 614583

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002524436Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benign
(Dec 5, 2021)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV002524436.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 5, 2024