NM_000038.6(APC):c.646C>G (p.Arg216Gly) AND Hereditary cancer-predisposing syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely benign (1 submission)
Last evaluated:: Feb 16, 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:: RCV000130641.2

Allele description

NM_000038.6(APC):c.646C>G (p.Arg216Gly)

Gene:

APC:APC regulator of WNT signaling pathway [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q22.2

Genomic location:

Preferred name:

NM_000038.6(APC):c.646C>G (p.Arg216Gly)

HGVS:

NC_000005.10:g.112792446C>G
NG_008481.4:g.104926C>G
NM_000038.6:c.646C>GMANE SELECT
NM_001127510.3:c.646C>G
NM_001127511.3:c.676-8833C>G
NM_001354895.2:c.646C>G
NM_001354896.2:c.646C>G
NM_001354897.2:c.676C>G
NM_001354898.2:c.571C>G
NM_001354899.2:c.646-8833C>G
NM_001354900.2:c.469C>G
NM_001354901.2:c.469C>G
NM_001354902.2:c.676C>G
NM_001354903.2:c.646C>G
NM_001354904.2:c.571C>G
NM_001354905.2:c.469C>G
NM_001354906.2:c.-390C>G
NP_000029.2:p.Arg216Gly
NP_001120982.1:p.Arg216Gly
NP_001341824.1:p.Arg216Gly
NP_001341825.1:p.Arg216Gly
NP_001341826.1:p.Arg226Gly
NP_001341827.1:p.Arg191Gly
NP_001341829.1:p.Arg157Gly
NP_001341830.1:p.Arg157Gly
NP_001341831.1:p.Arg226Gly
NP_001341832.1:p.Arg216Gly
NP_001341833.1:p.Arg191Gly
NP_001341834.1:p.Arg157Gly
LRG_130:g.104926C>G
NC_000005.9:g.112128143C>G
NM_000038.5:c.646C>G
p.R216G

Protein change:

R157G

Links:

dbSNP: rs62619935

NCBI 1000 Genomes Browser:

rs62619935

Molecular consequence:

NM_001354906.2:c.-390C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001127511.3:c.676-8833C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354899.2:c.646-8833C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000038.6:c.646C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127510.3:c.646C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354895.2:c.646C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354896.2:c.646C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354897.2:c.676C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354898.2:c.571C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354900.2:c.469C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354901.2:c.469C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354902.2:c.676C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354903.2:c.646C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354904.2:c.571C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354905.2:c.469C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV000185520	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (3/2017))	Likely benign (Feb 16, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000185520

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))

Likely benign
(Feb 16, 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	unknown	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000185520.6

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

Description

In silico models in agreement (benign)

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

Last Updated: Jun 18, 2022

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