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NM_002700.3(POU4F3):c.730C>G (p.Leu244Val) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 25, 2019
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:
RCV001760705.2

Allele description [Variation Report for NM_002700.3(POU4F3):c.730C>G (p.Leu244Val)]

NM_002700.3(POU4F3):c.730C>G (p.Leu244Val)

Genes:
POU4F3:POU class 4 homeobox 3 [Gene - OMIM - HGNC]
LOC127814297:RBM27-POU4F3 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
5q32
Genomic location:
Preferred name:
NM_002700.3(POU4F3):c.730C>G (p.Leu244Val)
HGVS:
  • NC_000005.10:g.146340157C>G
  • NG_011885.1:g.6134C>G
  • NM_002700.3:c.730C>GMANE SELECT
  • NP_002691.1:p.Leu244Val
  • LRG_1355t1:c.730C>G
  • LRG_1355:g.6134C>G
  • LRG_1355p1:p.Leu244Val
  • NC_000005.9:g.145719720C>G
  • NM_002700.2:c.730C>G
Protein change:
L244V
Links:
dbSNP: rs2126961813
NCBI 1000 Genomes Browser:
rs2126961813
Molecular consequence:
  • NM_002700.3:c.730C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001990456GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jul 25, 2019) 		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, SCV001990456.2

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

Description

Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Dec 24, 2023