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NM_005324.5(H3-3B):c.376C>A (p.Gln126Lys) AND Bryant-Li-Bhoj neurodevelopmental syndrome 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 22, 2023
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:
RCV003315190.2

Allele description [Variation Report for NM_005324.5(H3-3B):c.376C>A (p.Gln126Lys)]

NM_005324.5(H3-3B):c.376C>A (p.Gln126Lys)

Gene:
H3-3B:H3.3 histone B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.1
Genomic location:
Preferred name:
NM_005324.5(H3-3B):c.376C>A (p.Gln126Lys)
HGVS:
  • NC_000017.11:g.75778630G>T
  • NM_005324.5:c.376C>AMANE SELECT
  • NP_005315.1:p.Gln126Lys
  • NC_000017.10:g.73774711G>T
Protein change:
Q126K
Molecular consequence:
  • NM_005324.5:c.376C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Bryant-Li-Bhoj neurodevelopmental syndrome 2 (BRYLIB2)
Synonyms:
H3-3B syndrome
Identifiers:
MONDO: MONDO:0030607; MedGen: C5676906; OMIM: 619721

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004014814Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
criteria provided, single submitter

(ACGS Guidelines, 2020)		Likely pathogenic
(May 22, 2023) 		de novoclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues, SCV004014814.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 4, 2024