NM_004522.3(KIF5C):c.-36_-19del AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Sep 26, 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:: RCV001566009.3

Allele description [Variation Report for NM_004522.3(KIF5C):c.-36_-19del]

NM_004522.3(KIF5C):c.-36_-19del

Gene:

KIF5C:kinesin family member 5C [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q23.1

Genomic location:

Preferred name:

NM_004522.3(KIF5C):c.-36_-19del

HGVS:

NC_000002.12:g.148875582_148875599del
NG_042216.1:g.5360_5377del
NM_004522.3:c.-36_-19delMANE SELECT
NC_000002.11:g.149633151_149633168del
NM_004522.2:c.-36_-19del18
NM_004522.2:c.-36_-19delACCCATCCCCGTGCCCCC

Links:

dbSNP: rs534820275

NCBI 1000 Genomes Browser:

rs534820275

Molecular consequence:

NM_004522.3:c.-36_-19del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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calnexin isoform X3 [Pan paniscus]
calnexin isoform X3 [Pan paniscus]
gi|397475668|ref|XP_003809252.1|

Protein
PREDICTED: Pan paniscus calnexin (CANX), transcript variant X7, mRNA
PREDICTED: Pan paniscus calnexin (CANX), transcript variant X7, mRNA
gi|2694448981|ref|XM_063604341.1|

Nucleotide
calnexin isoform X1 [Pan paniscus]
calnexin isoform X1 [Pan paniscus]
gi|2694448982|ref|XP_063460411.1|

Protein
Uncultured Peptococcus sp. clone 42091 16S ribosomal RNA gene, partial sequence
Uncultured Peptococcus sp. clone 42091 16S ribosomal RNA gene, partial sequence
gi|2254962895|gb|ON785908.1|

Nucleotide
Pantoea sp. A38 16S ribosomal RNA gene, partial sequence
Pantoea sp. A38 16S ribosomal RNA gene, partial sequence
gi|523927987|gb|KC588518.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001789468	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Sep 26, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001789468

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Sep 26, 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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001789468.1

#	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 9, 2023

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