NM_014679.5(CEP57):c.1342A>G (p.Arg448Gly) AND Mosaic variegated aneuploidy syndrome 2

Germline classification:: Benign (2 submissions)
Last evaluated:: Feb 1, 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:: RCV000988625.7

Allele description [Variation Report for NM_014679.5(CEP57):c.1342A>G (p.Arg448Gly)]

NM_014679.5(CEP57):c.1342A>G (p.Arg448Gly)

Gene:

CEP57:centrosomal protein 57 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q21

Genomic location:

Preferred name:

NM_014679.5(CEP57):c.1342A>G (p.Arg448Gly)

HGVS:

NC_000011.10:g.95831095A>G
NG_008333.1:g.98113T>C
NG_029829.1:g.45635A>G
NM_001243776.2:c.1315A>G
NM_001243777.2:c.1264A>G
NM_001363604.2:c.1261A>G
NM_014679.5:c.1342A>GMANE SELECT
NP_001230705.1:p.Arg439Gly
NP_001230706.1:p.Arg422Gly
NP_001350533.1:p.Arg421Gly
NP_055494.2:p.Arg448Gly
LRG_257:g.98113T>C
LRG_526:g.45635A>G
NC_000011.9:g.95564259A>G

Protein change:

R421G

Links:

dbSNP: rs644799

NCBI 1000 Genomes Browser:

rs644799

Molecular consequence:

NM_001243776.2:c.1315A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001243777.2:c.1264A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001363604.2:c.1261A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_014679.5:c.1342A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Mosaic variegated aneuploidy syndrome 2 (MVA2)
Identifiers:: MONDO: MONDO:0013582; MedGen: C3279843; Orphanet: 1052; OMIM: 614114

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001138409	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Benign (May 28, 2019)	unknown	clinical testing	Citation Link,
SCV001721548	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Feb 1, 2024)	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

SCV001138409

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Benign
(May 28, 2019)

unknown

clinical testing

Citation Link,

SCV001721548

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Feb 1, 2024)

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
not provided	unknown	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):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Mendelics, SCV001138409.1

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

From Invitae, SCV001721548.4

#	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

Last Updated: Feb 20, 2024

ClinVar

Relating variation to medicine