NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs) AND not provided

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Jan 15, 2019
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000723632.6

Allele description [Variation Report for NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs)]

NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs)

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:

Insertion

Cytogenetic location:

3p25.3

Genomic location:

Preferred name:

NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs)

HGVS:

NC_000003.12:g.10149824_10149825insTTGTCCGT
NG_008212.3:g.13190_13191insTTGTCCGT
NG_046756.1:g.7586_7587insTTGTCCGT
NM_000551.4:c.501_502insTTGTCCGTMANE SELECT
NM_001354723.2:c.*55_*56insTTGTCCGT
NM_198156.3:c.378_379insTTGTCCGT
NP_000542.1:p.Ser168fs
NP_000542.1:p.Ser168fs
NP_937799.1:p.Ser127fs
LRG_322t1:c.501_502insTTGTCCGT
LRG_322:g.13190_13191insTTGTCCGT
LRG_322p1:p.Ser168fs
NC_000003.11:g.10191508_10191509insTTGTCCGT
NM_000551.3:c.501_502insTTGTCCGT
p.[Ser168Leufs*5]

Protein change:

S127fs

Links:

dbSNP: rs398123483

NCBI 1000 Genomes Browser:

rs398123483

Molecular consequence:

NM_001354723.2:c.*55_*56insTTGTCCGT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_000551.4:c.501_502insTTGTCCGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_198156.3:c.378_379insTTGTCCGT - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000111080	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Sep 25, 2014)	germline	clinical testing	Citation Link,
SCV001449743	Clinical Genetics and Genomics, Karolinska University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 15, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000111080

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Sep 25, 2014)

germline

clinical testing

Citation Link,

SCV001449743

Clinical Genetics and Genomics, Karolinska University Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 15, 2019)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Eurofins Ntd Llc (ga), SCV000111080.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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		2	not provided	not provided	not provided

From Clinical Genetics and Genomics, Karolinska University Hospital, SCV001449743.1

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

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

Last Updated: Sep 29, 2024

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