NM_000038.6(APC):c.705A>G (p.Leu235=) AND not provided

Germline classification:: Benign/Likely benign (7 submissions)
Last evaluated:: Aug 1, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000679083.39

Allele description [Variation Report for NM_000038.6(APC):c.705A>G (p.Leu235=)]

NM_000038.6(APC):c.705A>G (p.Leu235=)

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.705A>G (p.Leu235=)

Other names:

p.L235L:TTA>TTG; CCDS4107.1:c.705A>G; NM_000038.6(APC):c.705A>G; p.Leu235=

HGVS:

NC_000005.10:g.112792505A>G
NG_008481.4:g.104985A>G
NM_000038.6:c.705A>GMANE SELECT
NM_001127510.3:c.705A>G
NM_001127511.3:c.676-8774A>G
NM_001354895.2:c.705A>G
NM_001354896.2:c.705A>G
NM_001354897.2:c.735A>G
NM_001354898.2:c.630A>G
NM_001354899.2:c.646-8774A>G
NM_001354900.2:c.528A>G
NM_001354901.2:c.528A>G
NM_001354902.2:c.735A>G
NM_001354903.2:c.705A>G
NM_001354904.2:c.630A>G
NM_001354905.2:c.528A>G
NM_001354906.2:c.-331A>G
NP_000029.2:p.Leu235=
NP_001120982.1:p.Leu235=
NP_001341824.1:p.Leu235=
NP_001341825.1:p.Leu235=
NP_001341826.1:p.Leu245=
NP_001341827.1:p.Leu210=
NP_001341829.1:p.Leu176=
NP_001341830.1:p.Leu176=
NP_001341831.1:p.Leu245=
NP_001341832.1:p.Leu235=
NP_001341833.1:p.Leu210=
NP_001341834.1:p.Leu176=
LRG_130t1:c.705A>G
LRG_130:g.104985A>G
NC_000005.9:g.112128202A>G
NM_000038.4:c.705A>G
NM_000038.5:c.705A>G
NM_001127510.2:c.705A>G
NP_000029.2:p.(=)
p.L235L
p.Leu235Leu

Links:

dbSNP: rs147036141

NCBI 1000 Genomes Browser:

rs147036141

Molecular consequence:

NM_001354906.2:c.-331A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001127511.3:c.676-8774A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354899.2:c.646-8774A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000038.6:c.705A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001127510.3:c.705A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001354895.2:c.705A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001354896.2:c.705A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001354897.2:c.735A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001354898.2:c.630A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001354900.2:c.528A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001354901.2:c.528A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001354902.2:c.735A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001354903.2:c.705A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001354904.2:c.630A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001354905.2:c.528A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Taxonomy Links for Nucleotide (Select 1677501020) (1)
Taxonomy
PubChem Substance Links for Gene (Select 113091) (34)
PubChem Substance
Gene neighbors for Gene (Select 113091) (14)
Gene
OMIM Links for Nucleotide (Select 1677501020) (5)
OMIM
ClinVar for Gene (Select 113091) (29)
ClinVar

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
SCV000602537	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Benign (Oct 13, 2023)	germline	clinical testing	Citation Link,
SCV000805461	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Feb 9, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001798801	Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001808210	Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001951960	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001964968	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing
SCV002586065	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Aug 1, 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	yes	42	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000602537.5

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

#	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

From PreventionGenetics, part of Exact Sciences, SCV000805461.1

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

#	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

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001798801.1

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

#	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

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001808210.1

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

#	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

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001951960.1

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

#	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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001964968.1

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

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV002586065.15

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	42	not provided	not provided	clinical testing	not provided

Description

APC: BP4, BP7, BS1

#	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		42	not provided	not provided	not provided

Last Updated: Nov 10, 2024

Relating variation to medicine