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NM_001039876.3(SYNE4):c.962G>A (p.Arg321Gln) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 12, 2017
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:
RCV000607873.4

Allele description [Variation Report for NM_001039876.3(SYNE4):c.962G>A (p.Arg321Gln)]

NM_001039876.3(SYNE4):c.962G>A (p.Arg321Gln)

Gene:
SYNE4:spectrin repeat containing nuclear envelope family member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.12
Genomic location:
Preferred name:
NM_001039876.3(SYNE4):c.962G>A (p.Arg321Gln)
HGVS:
  • NC_000019.10:g.36005343C>T
  • NG_042831.1:g.8451G>A
  • NM_001039876.3:c.962G>AMANE SELECT
  • NM_001297735.3:c.623G>A
  • NP_001034965.1:p.Arg321Gln
  • NP_001284664.1:p.Arg208Gln
  • LRG_1385t1:c.962G>A
  • LRG_1385:g.8451G>A
  • LRG_1385p1:p.Arg321Gln
  • NC_000019.9:g.36496245C>T
  • NM_001039876.1:c.962G>A
  • NM_001039876.2:c.962G>A
Protein change:
R208Q
Links:
dbSNP: rs150043310
NCBI 1000 Genomes Browser:
rs150043310
Molecular consequence:
  • NM_001039876.3:c.962G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001297735.3:c.623G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000711654Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Likely benign
(Sep 12, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided22not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000711654.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

p.Arg321Gln in exon 6 of SYNE4: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, >10 mammals have a Gln at this position. In addition, computational predict ion tools do not suggest a high likelihood of impact to the protein. This varian t has also been identified in 0.11% (21/18870) of East Asian chromosomes includi ng 2 by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.or g; dbSNP rs150043310).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided2not provided

Last Updated: Sep 29, 2024