NM_014780.5(CUL7):c.1168GAG[1] (p.Glu391del) AND not provided

Germline classification:: Benign/Likely benign (4 submissions)
Last evaluated:: Jan 27, 2024
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:: RCV000954923.20

Allele description [Variation Report for NM_014780.5(CUL7):c.1168GAG[1] (p.Glu391del)]

NM_014780.5(CUL7):c.1168GAG[1] (p.Glu391del)

Gene:

CUL7:cullin 7 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

6p21.1

Genomic location:

Preferred name:

NM_014780.5(CUL7):c.1168GAG[1] (p.Glu391del)

HGVS:

NC_000006.12:g.43051028CTC[1]
NC_000006.12:g.43051028_43051030CTC[1]
NG_016205.1:g.7913GAG[1]
NM_001168370.2:c.1264GAG[1]
NM_001374872.1:c.1264GAG[1]
NM_001374873.1:c.1168GAG[1]
NM_001374874.1:c.1168GAG[1]
NM_014780.5:c.1168GAG[1]MANE SELECT
NP_001161842.2:p.Glu423del
NP_001361801.1:p.Glu423del
NP_001361802.1:p.Glu391del
NP_001361803.1:p.Glu391del
NP_055595.2:p.Glu391del
NC_000006.11:g.43018766CTC[1]
NC_000006.11:g.43018766_43018768del
NM_014780.4:c.1171_1173del
NM_014780.4:c.1171_1173delGAG

Protein change:

E391del

Links:

dbSNP: rs372224208

NCBI 1000 Genomes Browser:

rs372224208

Molecular consequence:

NM_001168370.2:c.1264GAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001374872.1:c.1264GAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001374873.1:c.1168GAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001374874.1:c.1168GAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_014780.5:c.1168GAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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irregular chiasm C-roughest protein-like isoform X1 [Aricia agestis]
irregular chiasm C-roughest protein-like isoform X1 [Aricia agestis]
gi|2058227845|ref|XP_041985811.1|

Protein
LOC104493199 [Buceros rhinoceros silvestris]
LOC104493199 [Buceros rhinoceros silvestris]
Gene ID:104493199

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001101590	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 27, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001798887	Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001971277	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing
SCV004161652	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Mar 1, 2023)	germline	clinical testing	Citation Link

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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
not provided	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001101590.6

#	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

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001798887.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001971277.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV004161652.9

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

Description

CUL7: BS2

#	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		2	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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