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NM_004522.3(KIF5C):c.525G>A (p.Ser175=) AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 19, 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:
RCV001714512.2

Allele description [Variation Report for NM_004522.3(KIF5C):c.525G>A (p.Ser175=)]

NM_004522.3(KIF5C):c.525G>A (p.Ser175=)

Gene:
KIF5C:kinesin family member 5C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q23.1
Genomic location:
Preferred name:
NM_004522.3(KIF5C):c.525G>A (p.Ser175=)
HGVS:
  • NC_000002.12:g.148942696G>A
  • NG_042216.1:g.72474G>A
  • NM_004522.3:c.525G>AMANE SELECT
  • NP_004513.1:p.Ser175=
  • NC_000002.11:g.149799210G>A
  • NM_004522.2:c.525G>A
Links:
dbSNP: rs183944203
NCBI 1000 Genomes Browser:
rs183944203
Molecular consequence:
  • NM_004522.3:c.525G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001945964GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Benign
(Sep 19, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV001945964.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024