NM_006480.5(RGS14):c.1213G>A (p.Glu405Lys) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 30, 2024
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:: RCV004449130.1

Allele description [Variation Report for NM_006480.5(RGS14):c.1213G>A (p.Glu405Lys)]

NM_006480.5(RGS14):c.1213G>A (p.Glu405Lys)

Gene:

RGS14:regulator of G protein signaling 14 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q35.3

Genomic location:

Preferred name:

NM_006480.5(RGS14):c.1213G>A (p.Glu405Lys)

HGVS:

NC_000005.10:g.177370990G>A
NM_001366617.1:c.1216G>A
NM_001366618.1:c.1216G>A
NM_006480.5:c.1213G>AMANE SELECT
NP_001353546.1:p.Glu406Lys
NP_001353547.1:p.Glu406Lys
NP_006471.2:p.Glu405Lys
NC_000005.9:g.176797991G>A
NM_006480.4:c.1213G>A

Protein change:

E405K

Molecular consequence:

NM_001366617.1:c.1216G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366618.1:c.1216G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_006480.5:c.1213G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Caenorhabditis elegans Tyrosine-protein kinase receptor old-1 (old-1), mRNA
Caenorhabditis elegans Tyrosine-protein kinase receptor old-1 (old-1), mRNA
gi|1972253885|ref|NM_063729.5|

Nucleotide
Caenorhabditis elegans Protein amnionless (amn-1), partial mRNA
Caenorhabditis elegans Protein amnionless (amn-1), partial mRNA
gi|1845976975|ref|NM_001313358.4|

Nucleotide
Interferon-Stimulated Gene Factor 3, gamma Subunit
Interferon-Stimulated Gene Factor 3, gamma Subunit
An interferon regulatory factor that recruits STAT1 PROTEIN and STAT2 PROTEIN heterodimers to interferon-stimulated response elements and functions as an immediate-early prote...<br/>Year introduced: 2006

MeSH

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004937825	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 30, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004937825

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 30, 2024)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004937825.1

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

Description

The c.1213G>A (p.E405K) alteration is located in exon 11 (coding exon 11) of the RGS14 gene. This alteration results from a G to A substitution at nucleotide position 1213, causing the glutamic acid (E) at amino acid position 405 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024

ClinVar

Relating variation to medicine