NM_017849.4(TMEM127):c.554G>A (p.Gly185Glu) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 12, 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:: RCV004681573.1

Allele description [Variation Report for NM_017849.4(TMEM127):c.554G>A (p.Gly185Glu)]

NM_017849.4(TMEM127):c.554G>A (p.Gly185Glu)

Gene:

TMEM127:transmembrane protein 127 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q11.2

Genomic location:

Preferred name:

NM_017849.4(TMEM127):c.554G>A (p.Gly185Glu)

HGVS:

NC_000002.12:g.96253971C>T
NG_027695.1:g.17043G>A
NM_001193304.3:c.554G>A
NM_001407282.1:c.302G>A
NM_001407283.1:c.302G>A
NM_017849.4:c.554G>AMANE SELECT
NP_001180233.1:p.Gly185Glu
NP_001394211.1:p.Gly101Glu
NP_001394212.1:p.Gly101Glu
NP_060319.1:p.Gly185Glu
NP_060319.1:p.Gly185Glu
LRG_528t1:c.554G>A
LRG_528:g.17043G>A
LRG_528p1:p.Gly185Glu
NC_000002.11:g.96919709C>T
NM_017849.3:c.554G>A

Protein change:

G101E

Molecular consequence:

NM_001193304.3:c.554G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407282.1:c.302G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407283.1:c.302G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_017849.4:c.554G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005175771	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 12, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005175771

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 12, 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, SCV005175771.1

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

Description

The p.G185E variant (also known as c.554G>A), located in coding exon 3 of the TMEM127 gene, results from a G to A substitution at nucleotide position 554. The glycine at codon 185 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant 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: Sep 29, 2024

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