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NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu) AND not provided

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Sep 1, 2022
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:
RCV000766628.17

Allele description [Variation Report for NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu)]

NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu)

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.9715C>G (p.Gln3239Glu)
HGVS:
  • NC_000006.12:g.152369064G>C
  • NG_012855.2:g.273336C>G
  • NM_033071.5:c.9736C>G
  • NM_182961.4:c.9715C>GMANE SELECT
  • NP_149062.1:p.Gln3246Glu
  • NP_149062.2:p.Gln3246Glu
  • NP_892006.3:p.Gln3239Glu
  • LRG_427t1:c.9715C>G
  • LRG_427t2:c.9736C>G
  • LRG_427:g.273336C>G
  • LRG_427p1:p.Gln3239Glu
  • LRG_427p2:p.Gln3246Glu
  • NC_000006.11:g.152690199G>C
  • NM_033071.3:c.9736C>G
  • NM_182961.2:c.9715C>G
Protein change:
Q3239E
Links:
dbSNP: rs149901087
NCBI 1000 Genomes Browser:
rs149901087
Molecular consequence:
  • NM_033071.5:c.9736C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_182961.4:c.9715C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000581805GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Dec 14, 2020) 		germlineclinical testing

Citation Link,

SCV004160582CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Likely benign
(Sep 1, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000581805.5

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

From CeGaT Center for Human Genetics Tuebingen, SCV004160582.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided

Description

SYNE1: BP4, BS1

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

Last Updated: Nov 3, 2024