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NM_003986.3(BBOX1):c.41C>A (p.Ala14Asp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 19, 2024
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:
RCV004605740.1

Allele description [Variation Report for NM_003986.3(BBOX1):c.41C>A (p.Ala14Asp)]

NM_003986.3(BBOX1):c.41C>A (p.Ala14Asp)

Genes:
BBOX1-AS1:BBOX1 antisense RNA 1 [Gene - HGNC]
BBOX1:gamma-butyrobetaine hydroxylase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p14.2
Genomic location:
Preferred name:
NM_003986.3(BBOX1):c.41C>A (p.Ala14Asp)
HGVS:
  • NC_000011.10:g.27055471C>A
  • NM_001376258.1:c.41C>A
  • NM_001376259.1:c.41C>A
  • NM_001376260.1:c.41C>A
  • NM_001376261.1:c.41C>A
  • NM_003986.3:c.41C>AMANE SELECT
  • NP_001363187.1:p.Ala14Asp
  • NP_001363188.1:p.Ala14Asp
  • NP_001363189.1:p.Ala14Asp
  • NP_001363190.1:p.Ala14Asp
  • NP_003977.1:p.Ala14Asp
  • NC_000011.9:g.27077018C>A
  • NM_003986.2:c.41C>A
Protein change:
A14D
Molecular consequence:
  • NM_001376258.1:c.41C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376259.1:c.41C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376260.1:c.41C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376261.1:c.41C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003986.3:c.41C>A - 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
SCV005099032Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 19, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005099032.1

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

Description

The c.41C>A (p.A14D) alteration is located in exon 3 (coding exon 1) of the BBOX1 gene. This alteration results from a C to A substitution at nucleotide position 41, causing the alanine (A) at amino acid position 14 to be replaced by an aspartic acid (D). 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: Aug 11, 2024