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NM_182961.4(SYNE1):c.22559G>A (p.Arg7520His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 5, 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:
RCV000430516.2

Allele description [Variation Report for NM_182961.4(SYNE1):c.22559G>A (p.Arg7520His)]

NM_182961.4(SYNE1):c.22559G>A (p.Arg7520His)

Gene:
SYNE1:spectrin repeat containing nuclear envelope protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q25.2
Genomic location:
Preferred name:
NM_182961.4(SYNE1):c.22559G>A (p.Arg7520His)
HGVS:
  • NC_000006.12:g.152211524C>T
  • NG_012855.2:g.430876G>A
  • NM_033071.5:c.22346G>A
  • NM_182961.4:c.22559G>AMANE SELECT
  • NP_149062.1:p.Arg7449His
  • NP_149062.2:p.Arg7449His
  • NP_892006.3:p.Arg7520His
  • LRG_427t1:c.22559G>A
  • LRG_427t2:c.22346G>A
  • LRG_427:g.430876G>A
  • LRG_427p1:p.Arg7520His
  • LRG_427p2:p.Arg7449His
  • NC_000006.11:g.152532659C>T
  • NM_033071.3:c.22346G>A
Protein change:
R7449H
Links:
dbSNP: rs752057121
NCBI 1000 Genomes Browser:
rs752057121
Molecular consequence:
  • NM_033071.5:c.22346G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_182961.4:c.22559G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000535843GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jan 5, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000535843.2

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

Description

A variant of uncertain significance has been identified in the SYNE1 gene. The R7449H variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R7449H variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R7449H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties and this substitution occurs at a position that is not conserved. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Mar 16, 2024