NM_003896.4(ST3GAL5):c.353del (p.Lys118fs) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 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:: RCV003424294.6

Allele description

NM_003896.4(ST3GAL5):c.353del (p.Lys118fs)

Gene:

ST3GAL5:ST3 beta-galactoside alpha-2,3-sialyltransferase 5 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2p11.2

Genomic location:

Preferred name:

NM_003896.4(ST3GAL5):c.353del (p.Lys118fs)

HGVS:

NC_000002.12:g.85848171del
NG_012807.1:g.45865del
NM_001042437.2:c.284del
NM_001354223.2:c.-32del
NM_001354224.2:c.-32del
NM_001354226.2:c.-32del
NM_001354227.2:c.269del
NM_001354229.2:c.269del
NM_001354233.2:c.-32del
NM_001354234.1:c.-32del
NM_001354238.1:c.269del
NM_001354247.1:c.-552del
NM_001354248.1:c.-32del
NM_001363847.1:c.353del
NM_003896.4:c.353delMANE SELECT
NP_001035902.1:p.Lys95fs
NP_001341156.1:p.Lys90fs
NP_001341158.1:p.Lys90fs
NP_001341167.1:p.Lys90fs
NP_001350776.1:p.Lys118fs
NP_003887.3:p.Lys118fs
NC_000002.11:g.86075293del
NC_000002.11:g.86075294del
NM_003896.3:c.353delA

Protein change:

K118fs

Links:

dbSNP: rs754643632

NCBI 1000 Genomes Browser:

rs754643632

Molecular consequence:

NM_001354223.2:c.-32del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354224.2:c.-32del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354226.2:c.-32del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354233.2:c.-32del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354234.1:c.-32del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354247.1:c.-552del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354248.1:c.-32del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001042437.2:c.284del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354227.2:c.269del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354229.2:c.269del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354238.1:c.269del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001363847.1:c.353del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003896.4:c.353del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004155132	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Jan 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004155132

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(Jan 1, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV004155132.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

Description

ST3GAL5: PVS1, PM2

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jun 17, 2024

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