NM_153614.4(DNAJB13):c.335-62_335-61insCC AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Dec 24, 2019
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:: RCV001527969.1

Allele description [Variation Report for NM_153614.4(DNAJB13):c.335-62_335-61insCC]

NM_153614.4(DNAJB13):c.335-62_335-61insCC

Gene:

DNAJB13:DnaJ heat shock protein family (Hsp40) member B13 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

11q13.4

Genomic location:

Preferred name:

NM_153614.4(DNAJB13):c.335-62_335-61insCC

HGVS:

NC_000011.10:g.73964816_73964817insCC
NG_053111.1:g.19498_19499insCC
NM_001377263.1:c.161-62_161-61insCC
NM_153614.4:c.335-62_335-61insCCMANE SELECT
NC_000011.9:g.73675861_73675862insCC

Links:

dbSNP: rs1554992104

NCBI 1000 Genomes Browser:

rs1554992104

Molecular consequence:

NM_001377263.1:c.161-62_161-61insCC - intron variant - [Sequence Ontology: SO:0001627]
NM_153614.4:c.335-62_335-61insCC - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001739120	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Dec 24, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001739120

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Dec 24, 2019)

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, SCV001739120.1

#	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

ClinVar

Relating variation to medicine