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NM_001278716.2(FBXL4):c.351G>A (p.Thr117=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 8, 2016
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:
RCV000442612.1

Allele description [Variation Report for NM_001278716.2(FBXL4):c.351G>A (p.Thr117=)]

NM_001278716.2(FBXL4):c.351G>A (p.Thr117=)

Gene:
FBXL4:F-box and leucine rich repeat protein 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q16.2
Genomic location:
Preferred name:
NM_001278716.2(FBXL4):c.351G>A (p.Thr117=)
HGVS:
  • NC_000006.12:g.98926638C>T
  • NG_033903.1:g.26369G>A
  • NM_001278716.2:c.351G>AMANE SELECT
  • NM_012160.5:c.351G>A
  • NP_001265645.1:p.Thr117=
  • NP_036292.2:p.Thr117=
  • NP_036292.2:p.Thr117=
  • NC_000006.11:g.99374514C>T
  • NM_012160.3:c.351G>A
  • NM_012160.4:c.351G>A
  • NR_103836.2:n.682G>A
  • NR_103837.2:n.682G>A
Links:
dbSNP: rs375173811
NCBI 1000 Genomes Browser:
rs375173811
Molecular consequence:
  • NR_103836.2:n.682G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_103837.2:n.682G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001278716.2:c.351G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_012160.5:c.351G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000531462GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Sep 8, 2016) 		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, SCV000531462.4

#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

Last Updated: Sep 29, 2024