NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser) AND not provided

Clinical significance:Benign (Last evaluated: Aug 7, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000756735.5

Allele description [Variation Report for NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser)]

NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser)

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.10207G>A (p.Gly3403Ser)
HGVS:
  • NC_000006.12:g.152362262C>T
  • NG_012855.2:g.280138G>A
  • NM_033071.3:c.10228G>A
  • NM_033071.5:c.10228G>A
  • NM_182961.4:c.10207G>AMANE SELECT
  • NP_149062.1:p.Gly3410Ser
  • NP_149062.2:p.Gly3410Ser
  • NP_892006.3:p.Gly3403Ser
  • LRG_427t1:c.10207G>A
  • LRG_427t2:c.10228G>A
  • LRG_427:g.280138G>A
  • LRG_427p1:p.Gly3403Ser
  • LRG_427p2:p.Gly3410Ser
  • NC_000006.11:g.152683397C>T
  • NM_033071.2:c.10228G>A
  • NM_182961.2:c.10207G>A
Protein change:
G3403S
Links:
dbSNP: rs116758271
NCBI 1000 Genomes Browser:
rs116758271
Molecular consequence:
  • NM_033071.3:c.10228G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033071.5:c.10228G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_182961.4:c.10207G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000884629ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Benign
(Aug 7, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000884629.1

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

Last Updated: Nov 11, 2021

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