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NM_017576.4(KIF27):c.2306A>G (p.Glu769Gly) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 27, 2023
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:
RCV004249420.1

Allele description [Variation Report for NM_017576.4(KIF27):c.2306A>G (p.Glu769Gly)]

NM_017576.4(KIF27):c.2306A>G (p.Glu769Gly)

Gene:
KIF27:kinesin family member 27 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q21.32
Genomic location:
Preferred name:
NM_017576.4(KIF27):c.2306A>G (p.Glu769Gly)
HGVS:
  • NC_000009.12:g.83883952T>C
  • NM_001271927.3:c.2306A>G
  • NM_001271928.3:c.2306A>G
  • NM_001354069.2:c.2306A>G
  • NM_001354070.2:c.866A>G
  • NM_001354071.2:c.866A>G
  • NM_017576.4:c.2306A>GMANE SELECT
  • NP_001258856.1:p.Glu769Gly
  • NP_001258857.1:p.Glu769Gly
  • NP_001340998.1:p.Glu769Gly
  • NP_001340999.1:p.Glu289Gly
  • NP_001341000.1:p.Glu289Gly
  • NP_060046.1:p.Glu769Gly
  • NC_000009.11:g.86498867T>C
  • NM_017576.1:c.2306A>G
Protein change:
E289G
Molecular consequence:
  • NM_001271927.3:c.2306A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271928.3:c.2306A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354069.2:c.2306A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354070.2:c.866A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354071.2:c.866A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017576.4:c.2306A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003875313Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 27, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003875313.2

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

Description

The c.2306A>G (p.E769G) alteration is located in exon 10 (coding exon 9) of the KIF27 gene. This alteration results from a A to G substitution at nucleotide position 2306, causing the glutamic acid (E) at amino acid position 769 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 3, 2024