NM_004667.6(HERC2):c.11992T>C (p.Phe3998Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 3, 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:
RCV003238934.1

Allele description [Variation Report for NM_004667.6(HERC2):c.11992T>C (p.Phe3998Leu)]

NM_004667.6(HERC2):c.11992T>C (p.Phe3998Leu)

Gene:
HERC2:HECT and RLD domain containing E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q13.1
Genomic location:
Preferred name:
NM_004667.6(HERC2):c.11992T>C (p.Phe3998Leu)
HGVS:
  • NC_000015.10:g.28141455A>G
  • NG_016355.1:g.185695T>C
  • NM_004667.6:c.11992T>CMANE SELECT
  • NP_004658.3:p.Phe3998Leu
  • NC_000015.9:g.28386601A>G
  • NM_004667.5:c.11992T>C
Protein change:
F3998L
Molecular consequence:
  • NM_004667.6:c.11992T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003936151GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jan 3, 2023) 		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, SCV003936151.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; 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: Jul 8, 2023