NM_031443.4(CCM2):c.98_123del (p.His33fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 12, 2019
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:: RCV000991754.2

Allele description [Variation Report for NM_031443.4(CCM2):c.98_123del (p.His33fs)]

NM_031443.4(CCM2):c.98_123del (p.His33fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_031443.4(CCM2):c.98_123del (p.His33fs)

HGVS:

NC_000007.14:g.45038320_45038345del
NG_016295.1:g.43133_43158del
NM_001029835.2:c.161_186del
NM_001167934.2:c.31-25598_31-25573del
NM_001167935.2:c.98_123del
NM_001363458.2:c.98_123del
NM_001363459.2:c.31-25598_31-25573del
NM_031443.4:c.98_123delMANE SELECT
NP_001025006.1:p.His54fs
NP_001161407.1:p.His33fs
NP_001350387.1:p.His33fs
NP_113631.1:p.His33fs
LRG_664t1:c.161_186del
LRG_664t2:c.98_123del
LRG_664:g.43133_43158del
LRG_664p1:p.His54fs
NC_000007.13:g.45077919_45077944del
NM_031443.3:c.98_123del
NR_030770.2:n.180_205del

Protein change:

H33fs

Links:

dbSNP: rs1583901813

NCBI 1000 Genomes Browser:

rs1583901813

Molecular consequence:

NM_001029835.2:c.161_186del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001167935.2:c.98_123del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001363458.2:c.98_123del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_031443.4:c.98_123del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001167934.2:c.31-25598_31-25573del - intron variant - [Sequence Ontology: SO:0001627]
NM_001363459.2:c.31-25598_31-25573del - intron variant - [Sequence Ontology: SO:0001627]
NR_030770.2:n.180_205del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV001143455	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Pathogenic (Jun 12, 2019)	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

SCV001143455

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Pathogenic
(Jun 12, 2019)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Athena Diagnostics, SCV001143455.1

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

Description

The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.

#	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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