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NM_000551.4(VHL):c.551T>C (p.Leu184Pro) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 28, 2015
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:
RCV000484822.1

Allele description [Variation Report for NM_000551.4(VHL):c.551T>C (p.Leu184Pro)]

NM_000551.4(VHL):c.551T>C (p.Leu184Pro)

Genes:
LOC107303340:3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region [Gene]
VHL:von Hippel-Lindau tumor suppressor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_000551.4(VHL):c.551T>C (p.Leu184Pro)
HGVS:
  • NC_000003.12:g.10149874T>C
  • NG_008212.3:g.13240T>C
  • NG_046756.1:g.7636T>C
  • NM_000551.4:c.551T>CMANE SELECT
  • NM_001354723.2:c.*105T>C
  • NM_198156.3:c.428T>C
  • NP_000542.1:p.Leu184Pro
  • NP_000542.1:p.Leu184Pro
  • NP_937799.1:p.Leu143Pro
  • LRG_322t1:c.551T>C
  • LRG_322:g.13240T>C
  • LRG_322p1:p.Leu184Pro
  • NC_000003.11:g.10191558T>C
  • NM_000551.3:c.551T>C
Protein change:
L143P
Links:
dbSNP: rs1064793878
NCBI 1000 Genomes Browser:
rs1064793878
Molecular consequence:
  • NM_001354723.2:c.*105T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000551.4:c.551T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198156.3:c.428T>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
SCV000567249GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jul 28, 2015) 		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, SCV000567249.4

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

Description

The L184P variant has been published previously in association von Hippel-Lindau disease without pheochromocytoma(Zbar et al., 1996). It was not observed in approximately 6,500 individuals of European and African Americanancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in thesepopulations. L184P is a semi-conservative amino acid substitution, which may impact secondary proteinstructure as these residues differ in some properties. This substitution occurs at a position that is conservedacross species and in-silico analysis predicts this variant is probably damaging to the proteinstructure/function. In addition, missense variants at the same codon (L184R/H) and in nearby residues(S183L, D179N, I180V, E186K, L188V/P/R/E) have also been reported in the Human Gene MutationDatabase in association with VHL-related disorders (Stenson et al., 2014), supporting the functionalimportance of this region of the protein. Therefore, we consider the L184P variant to be pathogenic.

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

Last Updated: Aug 5, 2023