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

Germline classification:: Benign (1 submission)
Last evaluated:: Jul 16, 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:: RCV002502156.2

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:: Baraitser-Winter syndrome 1 (BRWS1)
Synonyms:: Iris coloboma with ptosis, hypertelorism, and mental retardation; BARAITSER-WINTER SYNDROME 1, ATYPICAL; PACHYGYRIA, MENTAL RETARDATION, EPILEPSY, AND CHARACTERISTIC FACIES; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009470; MedGen: C1855722; Orphanet: 2649; Orphanet: 2995; OMIM: 243310

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

Recent activity

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News [Publication Type]
News [Publication Type]
Works consisting of an announcement or statement of recent or current events of new data and matters of interest in the field of medicine or science. In some publications, suc...<br/>Year introduced: 2008(1991)

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002805018	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Jul 16, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002805018

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Jul 16, 2021)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Fulgent Genetics, Fulgent Genetics, SCV002805018.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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