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NM_203281.3(BMX):c.1897C>T (p.Arg633Trp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 19, 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:
RCV004335310.1

Allele description [Variation Report for NM_203281.3(BMX):c.1897C>T (p.Arg633Trp)]

NM_203281.3(BMX):c.1897C>T (p.Arg633Trp)

Genes:
BMX:BMX non-receptor tyrosine kinase [Gene - OMIM - HGNC]
ACE2:angiotensin converting enzyme 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.2
Genomic location:
Preferred name:
NM_203281.3(BMX):c.1897C>T (p.Arg633Trp)
HGVS:
  • NC_000023.11:g.15549941C>T
  • NG_012575.2:g.57218G>A
  • NG_012575.3:g.62270G>A
  • NG_013227.1:g.54165C>T
  • NM_001320866.2:c.1894C>T
  • NM_001386259.1:c.2309+14083G>A
  • NM_001721.7:c.1897C>T
  • NM_203281.3:c.1897C>TMANE SELECT
  • NP_001307795.1:p.Arg632Trp
  • NP_001712.1:p.Arg633Trp
  • NP_975010.1:p.Arg633Trp
  • NC_000023.10:g.15568064C>T
  • NM_203281.2:c.1897C>T
Protein change:
R632W
Molecular consequence:
  • NM_001386259.1:c.2309+14083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001320866.2:c.1894C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001721.7:c.1897C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_203281.3:c.1897C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004059668Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 19, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004059668.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1897C>T (p.R633W) alteration is located in exon 18 (coding exon 17) of the BMX gene. This alteration results from a C to T substitution at nucleotide position 1897, causing the arginine (R) at amino acid position 633 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024