NM_031443.4(CCM2):c.804-12del AND Cerebral cavernous malformation 2

Germline classification:: Benign (2 submissions)
Last evaluated:: Nov 17, 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:: RCV002063936.8

Allele description [Variation Report for NM_031443.4(CCM2):c.804-12del]

NM_031443.4(CCM2):c.804-12del

Gene:

CCM2:CCM2 scaffold protein [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_031443.4(CCM2):c.804-12del

HGVS:

NC_000007.14:g.45073448del
NG_016295.1:g.78261del
NM_001029835.2:c.867-12del
NM_001167934.2:c.630-12del
NM_001167935.2:c.531-12del
NM_001363458.2:c.927-12del
NM_001363459.2:c.753-12del
NM_031443.4:c.804-12delMANE SELECT
LRG_664t1:c.867-12del
LRG_664:g.78261del
NC_000007.13:g.45113047del
NM_031443.3:c.804-12delA

Links:

dbSNP: rs533909649

NCBI 1000 Genomes Browser:

rs533909649

Molecular consequence:

NM_001029835.2:c.867-12del - intron variant - [Sequence Ontology: SO:0001627]
NM_001167934.2:c.630-12del - intron variant - [Sequence Ontology: SO:0001627]
NM_001167935.2:c.531-12del - intron variant - [Sequence Ontology: SO:0001627]
NM_001363458.2:c.927-12del - intron variant - [Sequence Ontology: SO:0001627]
NM_001363459.2:c.753-12del - intron variant - [Sequence Ontology: SO:0001627]
NM_031443.4:c.804-12del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Cerebral cavernous malformation 2
Identifiers:: MONDO: MONDO:0011304; MedGen: C1864041; Orphanet: 221061; OMIM: 603284

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002403239	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Nov 17, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004564911	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Benign (Oct 14, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002403239

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Nov 17, 2024)

germline

clinical testing

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

SCV004564911

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)

Benign
(Oct 14, 2023)

germline

clinical testing

Citation Link

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

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, SCV002403239.4

#	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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV004564911.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 25, 2025

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