NM_018241.3(TMEM184C):c.1243A>G (p.Lys415Glu) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 10, 2022
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:: RCV004217397.1

Allele description [Variation Report for NM_018241.3(TMEM184C):c.1243A>G (p.Lys415Glu)]

NM_018241.3(TMEM184C):c.1243A>G (p.Lys415Glu)

Gene:

TMEM184C:transmembrane protein 184C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q31.23

Genomic location:

Preferred name:

NM_018241.3(TMEM184C):c.1243A>G (p.Lys415Glu)

HGVS:

NC_000004.12:g.147634360A>G
NG_053105.1:g.54871T>C
NM_018241.3:c.1243A>GMANE SELECT
NP_060711.2:p.Lys415Glu
NC_000004.11:g.148555511A>G
NM_018241.2:c.1243A>G

Protein change:

K415E

Molecular consequence:

NM_018241.3:c.1243A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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fm66d06.x1 Zebrafish adult retina cDNA Danio rerio cDNA clone IMAGE:4200251 3', ...
fm66d06.x1 Zebrafish adult retina cDNA Danio rerio cDNA clone IMAGE:4200251 3', mRNA sequence
gi|16087124|gnl|dbEST|9783761|gb|BI 3.1|

Nucleotide
Oryza sativa Japonica Group cDNA clone:002-113-E05, full insert sequence
Oryza sativa Japonica Group cDNA clone:002-113-E05, full insert sequence
gi|32991850|dbj|AK106641.1|

Nucleotide
tram1 translocation associated membrane protein 1 [Danio rerio]
tram1 translocation associated membrane protein 1 [Danio rerio]
Gene ID:266757

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003733026	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 10, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003733026

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 10, 2022)

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, SCV003733026.2

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

Description

The c.1243A>G (p.K415E) alteration is located in exon 10 (coding exon 10) of the TMEM184C gene. This alteration results from a A to G substitution at nucleotide position 1243, causing the lysine (K) at amino acid position 415 to be replaced by a glutamic acid (E). 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: Nov 3, 2024

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