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

Germline classification:
no classifications from unflagged records (1 submission)
Review status:
no classifications from unflagged records
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:
RCV000478886.3

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:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000570167.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000570167GeneDx
flagged submission
Reason: This record appears to be redundant with a more recent record from the same submitter.
Notes: SCV000570167 appears to be redundant with SCV001789468.

(GeneDx Variant Classification (06012015))		Likely benign
(Jun 29, 2017) 		germlineclinical testing

Citation Link

Last Updated: Dec 9, 2023