U.S. flag

An official website of the United States government

NM_001101.5(ACTB):c.364-17_364-16delinsTC AND Baraitser-Winter syndrome 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 23, 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:
RCV002914621.3

Allele description [Variation Report for NM_001101.5(ACTB):c.364-17_364-16delinsTC]

NM_001101.5(ACTB):c.364-17_364-16delinsTC

Gene:
ACTB:actin beta [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
7p22.1
Genomic location:
Preferred name:
NM_001101.5(ACTB):c.364-17_364-16delinsTC
HGVS:
  • NC_000007.14:g.5528735_5528736delinsGA
  • NG_007992.1:g.6866_6867delinsTC
  • NG_110381.1:g.478_479delinsGA
  • NM_001101.5:c.364-17_364-16delinsTCMANE SELECT
  • LRG_132:g.6866_6867delinsTC
  • NC_000007.13:g.5568366_5568367delinsGA
Molecular consequence:
  • NM_001101.5:c.364-17_364-16delinsTC - intron variant - [Sequence Ontology: SO:0001627]

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

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
SCV003266378Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Jul 23, 2022)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003266378.2

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

Description

This sequence change falls in intron 3 of the ACTB gene. It does not directly change the encoded amino acid sequence of the ACTB protein. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with ACTB-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 29, 2024