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NM_000551.4(VHL):c.414A>G (p.Pro138=) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 28, 2021
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:
RCV001636725.3

Allele description [Variation Report for NM_000551.4(VHL):c.414A>G (p.Pro138=)]

NM_000551.4(VHL):c.414A>G (p.Pro138=)

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.414A>G (p.Pro138=)
Other names:
P138P
HGVS:
  • NC_000003.12:g.10146587A>G
  • NG_008212.3:g.9953A>G
  • NG_046756.1:g.4349A>G
  • NM_000551.4:c.414A>GMANE SELECT
  • NM_001354723.2:c.*18-3200A>G
  • NM_198156.3:c.341-3200A>G
  • NP_000542.1:p.Pro138=
  • NP_000542.1:p.Pro138=
  • LRG_322t1:c.414A>G
  • LRG_322:g.9953A>G
  • LRG_322p1:p.Pro138=
  • NC_000003.11:g.10188271A>G
  • NM_000551.3:c.414A>G
  • p.[Pro138=]
Protein change:
PRO138PRO
Links:
OMIM: 608537.0033; dbSNP: rs869025648
NCBI 1000 Genomes Browser:
rs869025648
Molecular consequence:
  • NM_001354723.2:c.*18-3200A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_198156.3:c.341-3200A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000551.4:c.414A>G - synonymous variant - [Sequence Ontology: SO:0001819]
Functional consequence:
sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071]

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
SCV001851420GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(May 28, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001851420.1

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

Description

Published functional studies demonstrate a damaging effect: skipping of exon 2 resulting in increased expression of the isoform lacking exon 2 and an increased expression of target genes (Lenglet 2018, Flores 2019, Liu 2020); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 29891534, 30946460, 32106822, 33362715, 25825477, 33151962)

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

Last Updated: Sep 29, 2024