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NM_182914.3(SYNE2):c.12001T>C (p.Trp4001Arg) AND not provided

Germline classification:
Benign (3 submissions)
Last evaluated:
May 2, 2019
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:
RCV000993211.6

Allele description [Variation Report for NM_182914.3(SYNE2):c.12001T>C (p.Trp4001Arg)]

NM_182914.3(SYNE2):c.12001T>C (p.Trp4001Arg)

Gene:
SYNE2:spectrin repeat containing nuclear envelope protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q23.2
Genomic location:
Preferred name:
NM_182914.3(SYNE2):c.12001T>C (p.Trp4001Arg)
HGVS:
  • NC_000014.9:g.64093373T>C
  • NG_011756.2:g.336475T>C
  • NM_015180.6:c.12001T>C
  • NM_182914.3:c.12001T>CMANE SELECT
  • NP_055995.4:p.Trp4001Arg
  • NP_878918.2:p.Trp4001Arg
  • NP_878918.2:p.Trp4001Arg
  • LRG_872t1:c.12001T>C
  • LRG_872:g.336475T>C
  • LRG_872p1:p.Trp4001Arg
  • NC_000014.8:g.64560091T>C
  • NG_011756.1:g.245409T>C
  • NM_182914.2:c.12001T>C
Protein change:
W4001R
Links:
dbSNP: rs2792205
NCBI 1000 Genomes Browser:
rs2792205
Molecular consequence:
  • NM_015180.6:c.12001T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_182914.3:c.12001T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001146019Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)
Benign
(May 2, 2019)
germlineclinical testing

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

SCV001887706GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Benign
(Jul 9, 2018)
germlineclinical testing

Citation Link,

SCV005296094Breakthrough Genomics, Breakthrough Genomics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benigngermlinenot provided

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing, not provided
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Athena Diagnostics, SCV001146019.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001887706.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Breakthrough Genomics, Breakthrough Genomics, SCV005296094.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024