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NM_182914.3(SYNE2):c.7040C>A (p.Ala2347Glu) AND not specified

Germline classification:
Benign (3 submissions)
Last evaluated:
Jan 22, 2020
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:
RCV000118546.11

Allele description [Variation Report for NM_182914.3(SYNE2):c.7040C>A (p.Ala2347Glu)]

NM_182914.3(SYNE2):c.7040C>A (p.Ala2347Glu)

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.7040C>A (p.Ala2347Glu)
HGVS:
  • NC_000014.9:g.64031176C>A
  • NG_011756.2:g.274278C>A
  • NM_015180.6:c.7040C>A
  • NM_182914.3:c.7040C>AMANE SELECT
  • NP_055995.4:p.Ala2347Glu
  • NP_878918.2:p.Ala2347Glu
  • NP_878918.2:p.Ala2347Glu
  • LRG_872t1:c.7040C>A
  • LRG_872:g.274278C>A
  • LRG_872p1:p.Ala2347Glu
  • NC_000014.8:g.64497894C>A
  • NG_011756.1:g.183212C>A
  • NM_182914.2:c.7040C>A
  • Q8WXH0:p.Ala2347Glu
Protein change:
A2347E
Links:
UniProtKB: Q8WXH0#VAR_050242; dbSNP: rs34625768
NCBI 1000 Genomes Browser:
rs34625768
Molecular consequence:
  • NM_015180.6:c.7040C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_182914.3:c.7040C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000152952Genetic Services Laboratory, University of Chicago
no assertion criteria provided
Likely benigngermlineclinical testing

SCV001475656Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)
Benign
(Jan 22, 2020)
unknownclinical testing

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

SCV001918338Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot 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

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000152952.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Athena Diagnostics, SCV001475656.1

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

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001918338.1

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

Last Updated: Oct 8, 2024