VCV003370325.1 - ClinVar

NM_001371395.1(USP53):c.1069dup (p.Ser357fs)

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

criteria provided, single submitter

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_001371395.1(USP53):c.1069dup (p.Ser357fs)

Variation ID: 3370325 Accession: VCV003370325.1

Type and length

Duplication, 1 bp

Location

Cytogenetic: 4q26 4: 119267413-119267414 (GRCh38) [ NCBI UCSC ] 4: 120188568-120188569 (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	Nov 3, 2024	Nov 3, 2024	Sep 30, 2024

HGVS

Nucleotide	Protein	Molecular consequence
NM_001371395.1:c.1069dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_001358324.1:p.Ser357fs	frameshift
NM_001371396.1:c.1069dup	NP_001358325.1:p.Ser357fs	frameshift
NM_001371397.1:c.1069dup	NP_001358326.1:p.Ser357fs	frameshift
NM_001371398.1:c.1069dup	NP_001358327.1:p.Ser357fs	frameshift
NM_001371399.1:c.1069dup	NP_001358328.1:p.Ser357fs	frameshift
NM_001389658.1:c.1069dup	NP_001376587.1:p.Ser357fs	frameshift
NM_001389659.1:c.1069dup	NP_001376588.1:p.Ser357fs	frameshift
NM_001389660.1:c.919dup	NP_001376589.1:p.Ser307fs	frameshift
NM_001389661.1:c.1069dup	NP_001376590.1:p.Ser357fs	frameshift
NM_001389662.1:c.721dup	NP_001376591.1:p.Ser241fs	frameshift
NM_001389663.1:c.721dup	NP_001376592.1:p.Ser241fs	frameshift
NM_001389664.1:c.721dup	NP_001376593.1:p.Ser241fs	frameshift
NM_001389665.1:c.721dup	NP_001376594.1:p.Ser241fs	frameshift
NM_001389666.1:c.721dup	NP_001376595.1:p.Ser241fs	frameshift
NM_001389667.1:c.721dup	NP_001376596.1:p.Ser241fs	frameshift
NM_019050.3:c.1069dup	NP_061923.2:p.Ser357fs	frameshift
NC_000004.12:g.119267416dup
NC_000004.11:g.120188571dup

... more HGVS ... less HGVS

Protein change

S241fs, S307fs, S357fs

Other names

Canonical SPDI

NC_000004.12:119267413:TTT:TTTT

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.
USP53		-	-	GRCh38 GRCh37	149	177

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.
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	Pathogenic (1)	criteria provided, single submitter	Sep 30, 2024	RCV004776357.1

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 (Sep 30, 2024)	criteria provided, single submitter (UK Practice Guidelines For Variant Classification V4 01 2020) Method: clinical testing	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss (Autosomal recessive inheritance) Affected status: yes Allele origin: germline	MVZ Medizinische Genetik Mainz Accession: SCV005387676.1 First in ClinVar: Nov 03, 2024 Last updated: Nov 03, 2024	Comment: ACMG Criteria: PVS1,PM2_SUP,PM3_SUP Number of individuals with the variant: 1 Clinical Features: Jaundice (present) , Cholestasis (present) , Cholestatic liver disease (present) , Neonatal cholestatic liver disease (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 Nov 10, 2024

ClinVar Genomic variation as it relates to human health

NM_001371395.1(USP53):c.1069dup (p.Ser357fs)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...