NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Mar 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000174962.3

Allele description [Variation Report for NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg)]

NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg)

Gene:
KIF7:kinesin family member 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg)
HGVS:
  • NC_000015.10:g.89631625T>C
  • NG_030338.1:g.28827A>G
  • NM_198525.3:c.2981A>GMANE SELECT
  • NP_940927.2:p.Gln994Arg
  • NC_000015.9:g.90174856T>C
  • NM_198525.2:c.2981A>G
  • Q2M1P5:p.Gln994Arg
Protein change:
Q994R
Links:
UniProtKB: Q2M1P5#VAR_066455; dbSNP: rs138410949
NCBI 1000 Genomes Browser:
rs138410949
Molecular consequence:
  • NM_198525.3:c.2981A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000329378GeneDxcriteria provided, single submitter
Uncertain significance
(Mar 28, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000329378.5

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

Description

The Q994R variant was previously reported in a patient with Bardet-Biedl syndrome who also had two variants identified in the BBS1 gene (Putoux et al., 2011). It was not observed with any significant frequency in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, but the 1000 Genomes Project reports Q994R was observed in 9/1006 (0.9%) alleles from individuals of European background. The Q994R variant is a a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals; however, Arginine is observed at this position in evolution. In silico analysis is inconsistent in its predictions as to whether or not the Q994R variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.

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

Last Updated: Aug 17, 2021

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