NM_014780.5(CUL7):c.785C>A (p.Ser262Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 10, 2022
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:: RCV001978751.4

Allele description [Variation Report for NM_014780.5(CUL7):c.785C>A (p.Ser262Ter)]

NM_014780.5(CUL7):c.785C>A (p.Ser262Ter)

Gene:

CUL7:cullin 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

Preferred name:

NM_014780.5(CUL7):c.785C>A (p.Ser262Ter)

HGVS:

NC_000006.12:g.43051416G>T
NG_016205.1:g.7530C>A
NM_001168370.2:c.881C>A
NM_001374872.1:c.881C>A
NM_001374873.1:c.785C>A
NM_001374874.1:c.785C>A
NM_014780.5:c.785C>AMANE SELECT
NP_001161842.2:p.Ser294Ter
NP_001361801.1:p.Ser294Ter
NP_001361802.1:p.Ser262Ter
NP_001361803.1:p.Ser262Ter
NP_055595.2:p.Ser262Ter
NC_000006.11:g.43019154G>T

Protein change:

S262*

Links:

dbSNP: rs764858516

NCBI 1000 Genomes Browser:

rs764858516

Molecular consequence:

NM_001168370.2:c.881C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001374872.1:c.881C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001374873.1:c.785C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001374874.1:c.785C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_014780.5:c.785C>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002219559	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Sep 10, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 16142236, 17675530, 19225462, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002219559

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Sep 10, 2022)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

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

Citations

PubMed

Identification of mutations in CUL7 in 3-M syndrome.

Huber C, Dias-Santagata D, Glaser A, O'Sullivan J, Brauner R, Wu K, Xu X, Pearce K, Wang R, Uzielli ML, Dagoneau N, Chemaitilly W, Superti-Furga A, Dos Santos H, Mégarbané A, Morin G, Gillessen-Kaesbach G, Hennekam R, Van der Burgt I, Black GC, Clayton PE, Read A, et al.

Nat Genet. 2005 Oct;37(10):1119-24. Epub 2005 Sep 4.

PubMed [citation]

PMID:: 16142236

Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia.

Maksimova N, Hara K, Miyashia A, Nikolaeva I, Shiga A, Nogovicina A, Sukhomyasova A, Argunov V, Shvedova A, Ikeuchi T, Nishizawa M, Kuwano R, Onodera O.

J Med Genet. 2007 Dec;44(12):772-8. Epub 2007 Aug 3.

PubMed [citation]

PMID:: 17675530
PMCID:: PMC2652813

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002219559.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1440040). This variant has not been reported in the literature in individuals affected with CUL7-related conditions. This variant is present in population databases (rs764858516, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Ser262*) in the CUL7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CUL7 are known to be pathogenic (PMID: 16142236, 17675530, 19225462).

#	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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