NM_000551.4(VHL):c.22T>G (p.Trp8Gly) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 27, 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:: RCV003230725.1

Allele description [Variation Report for NM_000551.4(VHL):c.22T>G (p.Trp8Gly)]

NM_000551.4(VHL):c.22T>G (p.Trp8Gly)

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.22T>G (p.Trp8Gly)

HGVS:

NC_000003.12:g.10141869T>G
NG_008212.3:g.5235T>G
NM_000551.3:c.22T>G
NM_000551.4:c.22T>GMANE SELECT
NM_001354723.2:c.22T>G
NM_198156.3:c.22T>G
NP_000542.1:p.Trp8Gly
NP_001341652.1:p.Trp8Gly
NP_937799.1:p.Trp8Gly
LRG_322t1:c.22T>G
LRG_322:g.5235T>G
NC_000003.11:g.10183553T>G

Protein change:

W8G

Links:

dbSNP: rs1352171735

NCBI 1000 Genomes Browser:

rs1352171735

Molecular consequence:

NM_000551.4:c.22T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354723.2:c.22T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198156.3:c.22T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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2080844[uid] (1)
Taxonomy
Table 6, Receptor Paneling of KOP agonist Probes 1 [ML139] CID5236771 & 2 [ML138...
Table 6, Receptor Paneling of KOP agonist Probes 1 [ML139] CID5236771 & 2 [ML138] CID44601470 through the PDSP (Bryan Roth, PI) - Probe Reports from the NIH Molecular Libraries Program
SAMN07339675 (1)
BioSample
Pool of samples from strain R: 9 & 10 (R-15-20 & R-15-10)
Pool of samples from strain R: 9 & 10 (R-15-20 & R-15-10)

biosample
Kryptolebias marmoratus post-diapause embryo
Kryptolebias marmoratus post-diapause embryo

biosample

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003929063	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Apr 27, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003929063

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Apr 27, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003929063.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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