Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC computed assertion could be determined for this classification!

Variant: NM_130839.5(UBE3A):c.176G>A (p.Arg59His)

CA173802

160202 (ClinVar)

Gene: UBE3A
Condition: Angelman syndrome
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: d6beb9a1-b0ed-4b34-b1ea-663b9f1975f0
Approved on: 2024-02-23
Published on: 2024-12-23

HGVS expressions

NM_130839.5:c.176G>A
NM_130839.5(UBE3A):c.176G>A (p.Arg59His)
NC_000015.10:g.25375650C>T
CM000677.2:g.25375650C>T
NC_000015.9:g.25620797C>T
CM000677.1:g.25620797C>T
NC_000015.8:g.23171890C>T
NG_009268.1:g.68332G>A
ENST00000438097.6:c.116G>A
ENST00000625778.3:c.116G>A
ENST00000635914.1:c.116G>A
ENST00000637886.1:c.176G>A
ENST00000638011.1:c.116G>A
ENST00000638155.1:c.116G>A
ENST00000648336.2:c.176G>A
ENST00000649550.1:c.116G>A
ENST00000650110.1:c.185G>A
ENST00000675000.1:n.851G>A
ENST00000675038.1:n.911G>A
ENST00000675177.1:c.-2G>A
ENST00000675593.1:n.2872G>A
ENST00000232165.7:c.116G>A
ENST00000397954.6:c.185G>A
ENST00000428984.6:c.116G>A
ENST00000438097.5:c.116G>A
ENST00000566215.5:c.116G>A
ENST00000614096.4:c.176G>A
ENST00000625778.2:c.116G>A
ENST00000626068.2:c.197G>A
ENST00000626793.2:n.310-83G>A
ENST00000628267.2:c.116G>A
ENST00000628733.2:c.176G>A
ENST00000629252.2:c.116G>A
ENST00000629886.2:c.176G>A
ENST00000630424.2:c.116G>A
ENST00000630607.2:c.116G>A
ENST00000630907.2:c.176G>A
NM_000462.3:c.185G>A
NM_130838.1:c.116G>A
NM_130839.2:c.176G>A
NM_000462.5:c.185G>A
NM_001354505.1:c.176G>A
NM_001354506.1:c.116G>A
NM_001354507.1:c.116G>A
NM_001354508.1:c.116G>A
NM_001354509.1:c.116G>A
NM_001354511.1:c.116G>A
NM_001354512.1:c.116G>A
NM_001354513.1:c.116G>A
NM_001354523.1:c.116G>A
NM_001354526.1:c.116G>A
NM_001354538.1:c.176G>A
NM_001354539.1:c.116G>A
NM_001354540.1:c.116G>A
NM_001354541.1:c.116G>A
NM_001354542.1:c.116G>A
NM_001354543.1:c.116G>A
NM_001354544.1:c.116G>A
NM_001354545.1:c.176G>A
NM_001354546.1:c.-2G>A
NM_001354547.1:c.116G>A
NM_001354548.1:c.116G>A
NM_001354549.1:c.116G>A
NM_001354550.1:c.176G>A
NM_001354551.1:c.116G>A
NM_130838.3:c.116G>A
NM_130839.4:c.176G>A
NR_146177.1:n.18393-15946C>T
NR_148916.1:n.724G>A
NM_001354506.2:c.116G>A
NM_001354507.2:c.116G>A
NM_001354508.2:c.116G>A
NM_001354509.2:c.116G>A
NM_001354511.2:c.116G>A
NM_001354512.2:c.116G>A
NM_001354513.2:c.116G>A
NM_001354523.2:c.116G>A
NM_001354538.2:c.176G>A
NM_001354539.2:c.116G>A
NM_001354540.2:c.116G>A
NM_001354541.2:c.116G>A
NM_001354542.2:c.116G>A
NM_001354543.2:c.116G>A
NM_001354544.2:c.116G>A
NM_001354545.2:c.176G>A
NM_001354546.2:c.-2G>A
NM_001354547.2:c.116G>A
NM_001354548.2:c.116G>A
NM_001354549.2:c.116G>A
NM_001354550.2:c.176G>A
NM_001354551.2:c.116G>A
NM_001374461.1:c.116G>A
NM_130838.4:c.116G>A
NR_148916.2:n.692G>A
More

Uncertain Significance

Not Met criteria codes 3
PP4 BS1 BP5

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for UBE3A Version 4.0.0

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Rett and Angelman-like Disorders VCEP
The highest population minor allele frequency of the p.Arg39His variant in UBE3A (NM_130838.2) in gnomAD v4.1 is 0.00001667 in Admixed American population (not sufficient to meet BS1 criteria). In summary, the p.Arg39His variant in UBE3A (NM_130838.2) is classified as a variant of uncertain significance based on the ACMG/AMP criteria (no criteria met).
Not Met criteria codes
PP4
The p.Arg39His variant has been observed in at least two affected individuals with an additional maternally inherited UBE3A variant (PMID: 9585605) (no criteria met).
BS1
The highest population minor allele frequency of the p.Arg39His variant in UBE3A (NM_130838.2) in gnomAD v4.1 is 0.00001667 in Admixed American population (not sufficient to meet BS1 criteria).
BP5
The p.Arg39His variant in UBE3A (NM_130838.2) is found in a patient with an alternate molecular basis of disease, however the inheritance is unknown (internal database - Baylor) (no criteria applied).
Curation History
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.
¤ Powered by BCM's Genboree.