NM_021964.3(ZNF148):c.1191_1194del (p.Ser397fs) AND not provided

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

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 1, 2018
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:: RCV000762386.17

Allele description

NM_021964.3(ZNF148):c.1191_1194del (p.Ser397fs)

Gene:

ZNF148:zinc finger protein 148 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3q21.2

Genomic location:

Preferred name:

NM_021964.3(ZNF148):c.1191_1194del (p.Ser397fs)

HGVS:

NC_000003.12:g.125233534_125233537del
NG_052987.1:g.146820_146823del
NM_001348424.1:c.1191_1194del
NM_001348425.2:c.1191_1194del
NM_001348426.2:c.1191_1194del
NM_001348427.2:c.1191_1194del
NM_001348428.2:c.1191_1194del
NM_001348429.2:c.1191_1194del
NM_001348430.2:c.1191_1194del
NM_001348431.2:c.1191_1194del
NM_001348432.2:c.1191_1194del
NM_001348433.2:c.1191_1194del
NM_001348434.2:c.1065_1068del
NM_021964.3:c.1191_1194delMANE SELECT
NP_001335353.1:p.Ser397fs
NP_001335354.1:p.Ser397fs
NP_001335355.1:p.Ser397fs
NP_001335356.1:p.Ser397fs
NP_001335357.1:p.Ser397fs
NP_001335358.1:p.Ser397fs
NP_001335359.1:p.Ser397fs
NP_001335360.1:p.Ser397fs
NP_001335361.1:p.Ser397fs
NP_001335362.1:p.Ser397fs
NP_001335363.1:p.Ser355fs
NP_068799.2:p.Ser397fs
NC_000003.11:g.124952378_124952381del

Protein change:

S355fs

Links:

dbSNP: rs1560102245

NCBI 1000 Genomes Browser:

rs1560102245

Molecular consequence:

NM_001348424.1:c.1191_1194del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348425.2:c.1191_1194del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348426.2:c.1191_1194del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348427.2:c.1191_1194del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348428.2:c.1191_1194del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348429.2:c.1191_1194del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348430.2:c.1191_1194del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348431.2:c.1191_1194del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348432.2:c.1191_1194del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348433.2:c.1191_1194del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348434.2:c.1065_1068del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_021964.3:c.1191_1194del - 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
SCV000892698	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely pathogenic (Jul 1, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000892698

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

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

Likely pathogenic
(Jul 1, 2018)

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	2	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV000892698.22

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

#	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		2	not provided	not provided	not provided

Last Updated: Apr 15, 2024

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