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NM_001101.5(ACTB):c.193C>T (p.Leu65Phe) AND Baraitser-Winter syndrome 1

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Feb 12, 2024
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:
RCV000133564.3

Allele description [Variation Report for NM_001101.5(ACTB):c.193C>T (p.Leu65Phe)]

NM_001101.5(ACTB):c.193C>T (p.Leu65Phe)

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.193C>T (p.Leu65Phe)
Other names:
p.Leu65Phe
HGVS:
  • NC_000007.14:g.5529331G>A
  • NG_007992.1:g.6271C>T
  • NM_001101.5:c.193C>TMANE SELECT
  • NP_001092.1:p.Leu65Phe
  • LRG_132t1:c.193C>T
  • LRG_132:g.6271C>T
  • NC_000007.13:g.5568962G>A
  • NM_001101.3:c.193C>T
Protein change:
L65F
Links:
dbSNP: rs281875332
NCBI 1000 Genomes Browser:
rs281875332
Molecular consequence:
  • NM_001101.5:c.193C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000148634Department of Genetics, Robert DEBRE University Hospital
no assertion criteria provided
Pathogenic
(Apr 15, 2014) 		germlineclinical testing

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

SCV004565366Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Feb 12, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion Almeida L, Juncos J, Kempers M, Eker HK, Lacombe D, et al.

Eur J Hum Genet. 2015 Mar;23(3):292-301. doi: 10.1038/ejhg.2014.95. Epub 2014 Jul 23.

PubMed [citation]
PMID:
25052316
PMCID:
PMC4326722

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 Department of Genetics, Robert DEBRE University Hospital, SCV000148634.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics, SCV004565366.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

A heterozygous missense variant in exon 3 of the ACTB gene that results in the amino acid substitution of Phenylalanine for Leucine at codon 65 (p.Leu65Phe) was detected. The observed variant and a different missense in the same codon (p.Leu65Val) has previously been reported in patients affected with Baraitser-Winter syndrome [PMID: 25052316, ClinVar: VCV000127161.4]. This variant has not been reported in the 1000 genomes, gnomAD (v3.1), gnomdAD (v2.1) and topmed databases. The in silico prediction of the variant are probably damaging by PolyPhen-2 (HumDiv), SIFT and LRT. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a likely pathogenic.

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

Last Updated: Oct 8, 2024