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NM_001039876.3(SYNE4):c.575G>A (p.Arg192Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 3, 2021
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:
RCV004088383.1

Allele description [Variation Report for NM_001039876.3(SYNE4):c.575G>A (p.Arg192Gln)]

NM_001039876.3(SYNE4):c.575G>A (p.Arg192Gln)

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.575G>A (p.Arg192Gln)
HGVS:
  • NC_000019.10:g.36006793C>T
  • NG_042831.1:g.7001G>A
  • NM_001039876.3:c.575G>AMANE SELECT
  • NM_001297735.3:c.280-122G>A
  • NP_001034965.1:p.Arg192Gln
  • LRG_1385t1:c.575G>A
  • LRG_1385:g.7001G>A
  • LRG_1385p1:p.Arg192Gln
  • NC_000019.9:g.36497695C>T
  • NM_001039876.1:c.575G>A
Protein change:
R192Q
Molecular consequence:
  • NM_001297735.3:c.280-122G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001039876.3:c.575G>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
SCV003554983Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 3, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003554983.2

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

Description

The c.575G>A (p.R192Q) alteration is located in exon 4 (coding exon 4) of the SYNE4 gene. This alteration results from a G to A substitution at nucleotide position 575, causing the arginine (R) at amino acid position 192 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024