VCV002577954.1 - ClinVar

NM_130839.5(UBE3A):c.1187_1188insAG (p.Pro397fs)

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(1)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

Pathogenic

no assertion criteria provided

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_130839.5(UBE3A):c.1187_1188insAG (p.Pro397fs)

Variation ID: 2577954 Accession: VCV002577954.1

Type and length

Insertion, 2 bp

Location

Cytogenetic: 15q11.2 15: 25370986-25370987 (GRCh38) [ NCBI UCSC ] 15: 25616133-25616134 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Sep 3, 2023	Sep 3, 2023	Feb 27, 2019

HGVS

Nucleotide	Protein	Molecular consequence
NM_130839.5:c.1187_1188insAG MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_570854.1:p.Pro397fs	frameshift
NM_000462.5:c.1196_1197insAG	NP_000453.2:p.Pro400fs	frameshift
NM_001354505.1:c.1187_1188insAG	NP_001341434.1:p.Pro397fs	frameshift
NM_001354506.2:c.1127_1128insAG	NP_001341435.1:p.Pro377fs	frameshift
NM_001354507.2:c.1127_1128insAG	NP_001341436.1:p.Pro377fs	frameshift
NM_001354508.2:c.1127_1128insAG	NP_001341437.1:p.Pro377fs	frameshift
NM_001354509.2:c.1127_1128insAG	NP_001341438.1:p.Pro377fs	frameshift
NM_001354511.2:c.1127_1128insAG	NP_001341440.1:p.Pro377fs	frameshift
NM_001354512.2:c.1127_1128insAG	NP_001341441.1:p.Pro377fs	frameshift
NM_001354513.2:c.1127_1128insAG	NP_001341442.1:p.Pro377fs	frameshift
NM_001354523.2:c.1127_1128insAG	NP_001341452.1:p.Pro377fs	frameshift
NM_001354526.1:c.1127_1128insAG	NP_001341455.1:p.Pro377fs	frameshift
NM_001354538.2:c.1187_1188insAG	NP_001341467.1:p.Pro397fs	frameshift
NM_001354539.2:c.1127_1128insAG	NP_001341468.1:p.Pro377fs	frameshift
NM_001354540.2:c.1127_1128insAG	NP_001341469.1:p.Pro377fs	frameshift
NM_001354541.2:c.1127_1128insAG	NP_001341470.1:p.Pro377fs	frameshift
NM_001354542.2:c.1127_1128insAG	NP_001341471.1:p.Pro377fs	frameshift
NM_001354543.2:c.1127_1128insAG	NP_001341472.1:p.Pro377fs	frameshift
NM_001354544.2:c.1127_1128insAG	NP_001341473.1:p.Pro377fs	frameshift
NM_001354545.2:c.1187_1188insAG	NP_001341474.1:p.Pro397fs	frameshift
NM_001354546.2:c.1010_1011insAG	NP_001341475.1:p.Pro338fs	frameshift
NM_001354547.2:c.1127_1128insAG	NP_001341476.1:p.Pro377fs	frameshift
NM_001354548.2:c.1127_1128insAG	NP_001341477.1:p.Pro377fs	frameshift
NM_001354549.2:c.1127_1128insAG	NP_001341478.1:p.Pro377fs	frameshift
NM_001354550.2:c.361+4478_361+4479insAG		intron variant
NM_001354551.2:c.301+4478_301+4479insAG		intron variant
NM_001374461.1:c.1127_1128insAG	NP_001361390.1:p.Pro377fs	frameshift
NM_130838.4:c.1127_1128insAG	NP_570853.1:p.Pro377fs	frameshift
NR_148916.2:n.1703_1704insAG		non-coding transcript variant
NC_000015.10:g.25370986_25370987insCT
NC_000015.9:g.25616133_25616134insCT
NG_009268.1:g.72995_72996insAG
LRG_15:g.72995_72996insAG
LRG_15t1:c.1127_1128insAG	LRG_15p1:p.Pro377Glyfs

... more HGVS ... less HGVS

Protein change

P338fs, P377fs, P397fs, P400fs

Other names

Canonical SPDI

NC_000015.10:25370986::CT

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
UBE3A		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	40	1234
SNHG14		-	-	GRCh38	4	1133

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
not provided	Pathogenic (1)	no assertion criteria provided	Feb 27, 2019	RCV003325360.2

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Pathogenic (Feb 27, 2019)	no assertion criteria provided Method: clinical testing	not provided Affected status: yes Allele origin: de novo	Molecular Genetics laboratory, Necker Hospital Accession: SCV004031331.1 First in ClinVar: Sep 03, 2023 Last updated: Sep 03, 2023	Clinical Features: Intellectual disability (present)

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for germline classification of this variant

There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for this variant ...

Record last updated Sep 09, 2023

ClinVar Genomic variation as it relates to human health

NM_130839.5(UBE3A):c.1187_1188insAG (p.Pro397fs)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...