NM_025132.4(WDR19):c.98+85del AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: May 16, 2021
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:: RCV001673621.2

Allele description [Variation Report for NM_025132.4(WDR19):c.98+85del]

NM_025132.4(WDR19):c.98+85del

Gene:

WDR19:WD repeat domain 19 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

4p14

Genomic location:

Preferred name:

NM_025132.4(WDR19):c.98+85del

HGVS:

NC_000004.12:g.39185902del
NG_031813.1:g.8499del
NM_001317924.2:c.-267+85del
NM_025132.4:c.98+85delMANE SELECT
NC_000004.11:g.39187522del

Links:

dbSNP: rs111449236

NCBI 1000 Genomes Browser:

rs111449236

Molecular consequence:

NM_001317924.2:c.-267+85del - intron variant - [Sequence Ontology: SO:0001627]
NM_025132.4:c.98+85del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Mus musculus N-ethylmaleimide sensitive fusion protein attachment protein beta (...
Mus musculus N-ethylmaleimide sensitive fusion protein attachment protein beta (Napb), mRNA
gi|141802184|ref|NM_019632.2|

Nucleotide
Mus musculus crystallin, beta B3, mRNA (cDNA clone MGC:25487 IMAGE:4501690), com...
Mus musculus crystallin, beta B3, mRNA (cDNA clone MGC:25487 IMAGE:4501690), complete cds
gi|21594420|gb|BC031442.1|

Nucleotide
MFS transporter [Pseudobacteroides sp.]
MFS transporter [Pseudobacteroides sp.]
gi|2674960481|ref|WP_331921933.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001882998	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (May 16, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001882998

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(May 16, 2021)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001882998.1

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

Last Updated: Dec 24, 2023

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