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NM_003986.3(BBOX1):c.535C>T (p.His179Tyr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 6, 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:
RCV004426029.1

Allele description [Variation Report for NM_003986.3(BBOX1):c.535C>T (p.His179Tyr)]

NM_003986.3(BBOX1):c.535C>T (p.His179Tyr)

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.535C>T (p.His179Tyr)
HGVS:
  • NC_000011.10:g.27115453C>T
  • NM_001376258.1:c.535C>T
  • NM_001376259.1:c.535C>T
  • NM_001376260.1:c.535C>T
  • NM_001376261.1:c.535C>T
  • NM_003986.3:c.535C>TMANE SELECT
  • NP_001363187.1:p.His179Tyr
  • NP_001363188.1:p.His179Tyr
  • NP_001363189.1:p.His179Tyr
  • NP_001363190.1:p.His179Tyr
  • NP_003977.1:p.His179Tyr
  • NC_000011.9:g.27137000C>T
  • NM_003986.2:c.535C>T
Protein change:
H179Y
Molecular consequence:
  • NM_001376258.1:c.535C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376259.1:c.535C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376260.1:c.535C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376261.1:c.535C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003986.3:c.535C>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
SCV004911730Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 6, 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, SCV004911730.1

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

Description

The c.535C>T (p.H179Y) alteration is located in exon 6 (coding exon 4) of the BBOX1 gene. This alteration results from a C to T substitution at nucleotide position 535, causing the histidine (H) at amino acid position 179 to be replaced by a tyrosine (Y). 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: May 7, 2024