NM_000551.4(VHL):c.3G>T (p.Met1Ile) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jul 12, 2023
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:: RCV000236708.8

Allele description

NM_000551.4(VHL):c.3G>T (p.Met1Ile)

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.3G>T (p.Met1Ile)

HGVS:

NC_000003.12:g.10141850G>T
NG_008212.3:g.5216G>T
NM_000551.4:c.3G>TMANE SELECT
NM_001354723.2:c.3G>T
NM_198156.3:c.3G>T
NP_000542.1:p.Met1Ile
NP_000542.1:p.Met1Ile
NP_001341652.1:p.Met1Ile
NP_937799.1:p.Met1Ile
LRG_322t1:c.3G>T
LRG_322:g.5216G>T
LRG_322p1:p.Met1Ile
NC_000003.11:g.10183534G>T
NM_000551.3:c.3G>T

Protein change:

M1I

Links:

dbSNP: rs578091032

NCBI 1000 Genomes Browser:

rs578091032

Molecular consequence:

NM_000551.4:c.3G>T - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001354723.2:c.3G>T - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_198156.3:c.3G>T - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_000551.4:c.3G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001354723.2:c.3G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_198156.3:c.3G>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000293412	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jul 12, 2023)	germline	clinical testing	Citation Link,
SCV000805345	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 14, 2018)	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

SCV000293412

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jul 12, 2023)

germline

clinical testing

Citation Link,

SCV000805345

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 14, 2018)

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	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	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 GeneDx, SCV000293412.13

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

Description

Initiation codon 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 et al., 1998; Schoenfeld et al., 1998; Blankenship et al., 1999); Observed in an individual with early-onset breast cancer (Chan et al., 2018); This variant is associated with the following publications: (PMID: 9751722, 10102622, 9671762, 23541568, 30093976, 33840814, 32191290)

#	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		not provided	not provided	not provided	not provided

From PreventionGenetics, part of Exact Sciences, SCV000805345.2

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

Last Updated: May 7, 2024

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