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NM_001072.4(UGT1A6):c.206A>G (p.Glu69Gly) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 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:
RCV004268002.1

Allele description [Variation Report for NM_001072.4(UGT1A6):c.206A>G (p.Glu69Gly)]

NM_001072.4(UGT1A6):c.206A>G (p.Glu69Gly)

Genes:
  • UGT1A:UDP glucuronosyltransferase family 1 member A complex locus [Gene - HGNC]
  • UGT1A10:UDP glucuronosyltransferase family 1 member A10 [Gene - OMIM - HGNC]
  • UGT1A6:UDP glucuronosyltransferase family 1 member A6 [Gene - OMIM - HGNC]
  • UGT1A7:UDP glucuronosyltransferase family 1 member A7 [Gene - OMIM - HGNC]
  • UGT1A8:UDP glucuronosyltransferase family 1 member A8 [Gene - OMIM - HGNC]
  • UGT1A9:UDP glucuronosyltransferase family 1 member A9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q37.1
Genomic location:
Preferred name:
NM_001072.4(UGT1A6):c.206A>G (p.Glu69Gly)
HGVS:
  • NC_000002.12:g.233693210A>G
  • NG_002601.2:g.108467A>G
  • NM_001072.4:c.206A>GMANE SELECT
  • NM_019075.4:c.855+55833A>GMANE SELECT
  • NM_019076.5:c.856-73824A>GMANE SELECT
  • NM_019077.3:c.855+10418A>GMANE SELECT
  • NM_021027.3:c.855+20421A>GMANE SELECT
  • NM_205862.3:c.-7-589A>G
  • NP_001063.2:p.Glu69Gly
  • NP_001063.2:p.Glu69Gly
  • NC_000002.11:g.234601856A>G
  • NM_001072.3:c.206A>G
Protein change:
E69G
Molecular consequence:
  • NM_019075.4:c.855+55833A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_019076.5:c.856-73824A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_019077.3:c.855+10418A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_021027.3:c.855+20421A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_205862.3:c.-7-589A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001072.4:c.206A>G - 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
SCV003890469Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 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, SCV003890469.2

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

Description

The c.206A>G (p.E69G) alteration is located in exon 1 (coding exon 1) of the UGT1A6 gene. This alteration results from a A to G substitution at nucleotide position 206, causing the glutamic acid (E) at amino acid position 69 to be replaced by a glycine (G). 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: Oct 26, 2024