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NM_000397.4(CYBB):c.1103C>T (p.Ala368Val) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
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:
RCV000785880.2

Allele description [Variation Report for NM_000397.4(CYBB):c.1103C>T (p.Ala368Val)]

NM_000397.4(CYBB):c.1103C>T (p.Ala368Val)

Gene:
CYBB:cytochrome b-245 beta chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.4
Genomic location:
Preferred name:
NM_000397.4(CYBB):c.1103C>T (p.Ala368Val)
HGVS:
  • NC_000023.11:g.37804082C>T
  • NG_009065.1:g.29066C>T
  • NM_000397.4:c.1103C>TMANE SELECT
  • NP_000388.2:p.Ala368Val
  • NP_000388.2:p.Ala368Val
  • LRG_53t1:c.1103C>T
  • LRG_53:g.29066C>T
  • LRG_53p1:p.Ala368Val
  • NC_000023.10:g.37663335C>T
  • NM_000397.3:c.1103C>T
Protein change:
A368V
Links:
dbSNP: rs781935760
NCBI 1000 Genomes Browser:
rs781935760
Molecular consequence:
  • NM_000397.4:c.1103C>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Uncertain function

Condition(s)

Name:
Primary ciliary dyskinesia
Synonyms:
Ciliary dyskinesia
Identifiers:
MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
Name:
Recurrent bronchitis
Identifiers:
MedGen: C0741796; Human Phenotype Ontology: HP:0002837
Name:
Dynein arm defect of respiratory motile cilia
Identifiers:
MedGen: C4022990; Human Phenotype Ontology: HP:0012255

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000902259Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS)
criteria provided, single submitter

(Submitter's publication)		Uncertain significancesomaticresearch

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyes1not providednot providednot providednot providedresearch

Details of each submission

From Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS), SCV000902259.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearchnot provided

Description

The variant detected in a patient with Kartagener syndrome lacking both dynein arms in its axoneme. Some Bioinformatic tools predict as pathogenic but no differences in mRNA expression were observed.

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

Last Updated: Jan 13, 2025