NM_000397.4(CYBB):c.602_605dup (p.Phe202fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 27, 2015
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:: RCV000486933.1

Allele description [Variation Report for NM_000397.4(CYBB):c.602_605dup (p.Phe202fs)]

NM_000397.4(CYBB):c.602_605dup (p.Phe202fs)

Gene:

CYBB:cytochrome b-245 beta chain [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

Xp21.1

Genomic location:

Preferred name:

NM_000397.4(CYBB):c.602_605dup (p.Phe202fs)

HGVS:

NC_000023.11:g.37796069_37796072dup
NG_009065.1:g.21049_21052dup
NM_000397.4:c.602_605dupMANE SELECT
NP_000388.2:p.Phe202fs
LRG_53:g.21049_21052dup
NC_000023.10:g.37655322_37655325dup
NM_000397.3:c.602_605dupACTT

Protein change:

F202fs

Links:

dbSNP: rs1556468363

NCBI 1000 Genomes Browser:

rs1556468363

Molecular consequence:

NM_000397.4:c.602_605dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000567490	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jul 27, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000567490

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jul 27, 2015)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000567490.4

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

Description

The c.602_605dupACTT duplication causes a frameshift starting with codonPhenylalanine 202, changes this amino acid to a Leucine residue and creates a premature Stop codon atposition 3 of the new reading frame, denoted p.Phe202LeufsX3. This duplication is predicted to cause loss ofnormal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we interpret c.602_605dupACTT as a pathogenic variant.

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

Last Updated: Apr 23, 2022

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