U.S. flag

An official website of the United States government

NM_000101.4(CYBA):c.139G>A (p.Val47Met) AND Chronic granulomatous disease

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 28, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001828185.1

Allele description [Variation Report for NM_000101.4(CYBA):c.139G>A (p.Val47Met)]

NM_000101.4(CYBA):c.139G>A (p.Val47Met)

Gene:
CYBA:cytochrome b-245 alpha chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.2
Genomic location:
Preferred name:
NM_000101.4(CYBA):c.139G>A (p.Val47Met)
HGVS:
  • NC_000016.10:g.88647165C>T
  • NG_007291.1:g.8885G>A
  • NM_000101.4:c.139G>AMANE SELECT
  • NP_000092.2:p.Val47Met
  • LRG_52:g.8885G>A
  • NC_000016.9:g.88713573C>T
Protein change:
V47M
Links:
dbSNP: rs886042280
NCBI 1000 Genomes Browser:
rs886042280
Molecular consequence:
  • NM_000101.4:c.139G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Chronic granulomatous disease
Identifiers:
MONDO: MONDO:0018305; MedGen: C0018203; OMIM: PS306400

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002089449Natera, Inc.
no assertion criteria provided
Uncertain significance
(Oct 28, 2019) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002089449.1

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

Last Updated: Sep 29, 2024