NM_012431.3(SEMA3E):c.1630T>C (p.Cys544Arg) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 14, 2019
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:: RCV001776914.2

Allele description [Variation Report for NM_012431.3(SEMA3E):c.1630T>C (p.Cys544Arg)]

NM_012431.3(SEMA3E):c.1630T>C (p.Cys544Arg)

Gene:

SEMA3E:semaphorin 3E [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.11

Genomic location:

Preferred name:

NM_012431.3(SEMA3E):c.1630T>C (p.Cys544Arg)

HGVS:

NC_000007.14:g.83392592A>G
NG_021242.2:g.261572T>C
NM_001178129.2:c.1450T>C
NM_012431.3:c.1630T>CMANE SELECT
NP_001171600.1:p.Cys484Arg
NP_036563.1:p.Cys544Arg
LRG_1287t1:c.1630T>C
LRG_1287:g.261572T>C
LRG_1287p1:p.Cys544Arg
NC_000007.13:g.83021908A>G
NM_012431.2:c.1630T>C

Protein change:

C484R

Links:

dbSNP: rs2115581814

NCBI 1000 Genomes Browser:

rs2115581814

Molecular consequence:

NM_001178129.2:c.1450T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_012431.3:c.1630T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Xenoramularia neerlandica strain CBS 113615 DNA-dependent RNA polymerase II seco...
Xenoramularia neerlandica strain CBS 113615 DNA-dependent RNA polymerase II second largest subunit (rpb2) gene, partial cds
gi|1097201808|gb|KX288721.1|

Nucleotide
Conserved Domain Links for Protein (Select 2088232047) (1)
Conserved Domains

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002013871	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Aug 14, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002013871

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Aug 14, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV002013871.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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