NM_014780.5(CUL7):c.1144C>T (p.Arg382Ter) AND not provided

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 27, 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:: RCV001858614.3

Allele description

NM_014780.5(CUL7):c.1144C>T (p.Arg382Ter)

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.1144C>T (p.Arg382Ter)

HGVS:

NC_000006.12:g.43051057G>A
NG_016205.1:g.7889C>T
NM_001168370.2:c.1240C>T
NM_001374872.1:c.1240C>T
NM_001374873.1:c.1144C>T
NM_001374874.1:c.1144C>T
NM_014780.5:c.1144C>TMANE SELECT
NP_001161842.2:p.Arg414Ter
NP_001361801.1:p.Arg414Ter
NP_001361802.1:p.Arg382Ter
NP_001361803.1:p.Arg382Ter
NP_055595.2:p.Arg382Ter
NC_000006.11:g.43018795G>A
NC_000006.11:g.43018795G>A
NM_014780.4:c.1144C>T

Protein change:

R382*

Links:

dbSNP: rs1023630527

NCBI 1000 Genomes Browser:

rs1023630527

Molecular consequence:

NM_001168370.2:c.1240C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001374872.1:c.1240C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001374873.1:c.1144C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001374874.1:c.1144C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_014780.5:c.1144C>T - 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
SCV002206834	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jun 27, 2022)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 22325252, 16142236, 17675530, 19225462, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002206834

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jun 27, 2022)

germline

clinical testing

PubMed (5)
[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

3M syndrome: an easily recognizable yet underdiagnosed cause of proportionate short stature.

Al-Dosari MS, Al-Shammari M, Shaheen R, Faqeih E, Alghofely MA, Boukai A, Alkuraya FS.

J Pediatr. 2012 Jul;161(1):139-45.e1. doi: 10.1016/j.jpeds.2011.12.051. Epub 2012 Feb 9.

PubMed [citation]

PMID:: 22325252

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

See all PubMed Citations (5)

Details of each submission

From Invitae, SCV002206834.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

ClinVar contains an entry for this variant (Variation ID: 800989). 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. This premature translational stop signal has been observed in individual(s) with 3M syndrome (PMID: 22325252). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Arg382*) 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: Aug 4, 2024

ClinVar

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