NM_001101.5(ACTB):c.168C>T (p.Asp56=) AND Developmental malformations-deafness-dystonia syndrome

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:
RCV002253375.2

Allele description [Variation Report for NM_001101.5(ACTB):c.168C>T (p.Asp56=)]

NM_001101.5(ACTB):c.168C>T (p.Asp56=)

Gene:
ACTB:actin beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p22.1
Genomic location:
Preferred name:
NM_001101.5(ACTB):c.168C>T (p.Asp56=)
HGVS:
  • NC_000007.14:g.5529356G>A
  • NG_007992.1:g.6246C>T
  • NM_001101.5:c.168C>TMANE SELECT
  • NP_001092.1:p.Asp56=
  • LRG_132t1:c.168C>T
  • LRG_132:g.6246C>T
  • NC_000007.13:g.5568987G>A
  • NM_001101.3:c.168C>T
  • NM_001101.4:c.168C>T
Links:
dbSNP: rs13447398
NCBI 1000 Genomes Browser:
rs13447398
Molecular consequence:
  • NM_001101.5:c.168C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Developmental malformations-deafness-dystonia syndrome (DDS1)
Synonyms:
Juvenile-onset dystonia
Identifiers:
MONDO: MONDO:0011823; MedGen: C5848323; Orphanet: 79107; OMIM: 607371

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002524409Genome-Nilou Lab
criteria provided, single submitter

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

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

Help

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, SCV002524409.1

#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: Nov 3, 2024