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NM_000551.4(VHL):c.13_31dup (p.Ala11fs) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 12, 2020
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:
RCV001764028.2

Allele description [Variation Report for NM_000551.4(VHL):c.13_31dup (p.Ala11fs)]

NM_000551.4(VHL):c.13_31dup (p.Ala11fs)

Gene:
VHL:von Hippel-Lindau tumor suppressor [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_000551.4(VHL):c.13_31dup (p.Ala11fs)
HGVS:
  • NC_000003.12:g.10141860_10141878dup
  • NG_008212.3:g.5226_5244dup
  • NM_000551.4:c.13_31dupMANE SELECT
  • NM_001354723.2:c.13_31dup
  • NM_198156.3:c.13_31dup
  • NP_000542.1:p.Ala11fs
  • NP_001341652.1:p.Ala11fs
  • NP_937799.1:p.Ala11fs
  • LRG_322t1:c.13_31dup
  • LRG_322:g.5226_5244dup
  • NC_000003.11:g.10183544_10183562dup
  • NM_000551.3:c.13_31dup
Protein change:
A11fs
Links:
dbSNP: rs1455562175
NCBI 1000 Genomes Browser:
rs1455562175
Molecular consequence:
  • NM_000551.4:c.13_31dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354723.2:c.13_31dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_198156.3:c.13_31dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV002000300GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Nov 12, 2020) 		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, SCV002000300.2

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

Description

Truncating variant in a gene for which a downstream in-frame ATG produces an alternate clinically-relevant isoform, pVHL19, that may result in a functional protein (Iliopoulos 1998, Schoenfeld 1998, Blankenship 1999); 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