NM_000038.6(APC):c.2476T>G (p.Leu826Val) AND Classic or attenuated familial adenomatous polyposis

Germline classification:: Benign (1 submission)
Last evaluated:: Feb 5, 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:: RCV003998079.2

Allele description [Variation Report for NM_000038.6(APC):c.2476T>G (p.Leu826Val)]

NM_000038.6(APC):c.2476T>G (p.Leu826Val)

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.2476T>G (p.Leu826Val)

Other names:

NM_000038.6(APC):c.2476T>G; p.Leu826Val

HGVS:

NC_000005.10:g.112838070T>G
NG_008481.4:g.150550T>G
NM_000038.6:c.2476T>GMANE SELECT
NM_001127510.3:c.2476T>G
NM_001127511.3:c.2422T>G
NM_001354895.2:c.2476T>G
NM_001354896.2:c.2530T>G
NM_001354897.2:c.2506T>G
NM_001354898.2:c.2401T>G
NM_001354899.2:c.2392T>G
NM_001354900.2:c.2353T>G
NM_001354901.2:c.2299T>G
NM_001354902.2:c.2203T>G
NM_001354903.2:c.2173T>G
NM_001354904.2:c.2098T>G
NM_001354905.2:c.1996T>G
NM_001354906.2:c.1627T>G
NP_000029.2:p.Leu826Val
NP_001120982.1:p.Leu826Val
NP_001120983.2:p.Leu808Val
NP_001341824.1:p.Leu826Val
NP_001341825.1:p.Leu844Val
NP_001341826.1:p.Leu836Val
NP_001341827.1:p.Leu801Val
NP_001341828.1:p.Leu798Val
NP_001341829.1:p.Leu785Val
NP_001341830.1:p.Leu767Val
NP_001341831.1:p.Leu735Val
NP_001341832.1:p.Leu725Val
NP_001341833.1:p.Leu700Val
NP_001341834.1:p.Leu666Val
NP_001341835.1:p.Leu543Val
LRG_130:g.150550T>G
NC_000005.9:g.112173767T>G
NM_000038.4:c.2476T>G
NM_000038.5:c.2476T>G
p.L826V

Protein change:

L543V

Links:

dbSNP: rs145245264

NCBI 1000 Genomes Browser:

rs145245264

Molecular consequence:

NM_000038.6:c.2476T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127510.3:c.2476T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127511.3:c.2422T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354895.2:c.2476T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354896.2:c.2530T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354897.2:c.2506T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354898.2:c.2401T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354899.2:c.2392T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354900.2:c.2353T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354901.2:c.2299T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354902.2:c.2203T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354903.2:c.2173T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354904.2:c.2098T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354905.2:c.1996T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354906.2:c.1627T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Classic or attenuated familial adenomatous polyposis
Identifiers:: MONDO: MONDO:0021057; MedGen: CN372698

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004839685	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Feb 5, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004839685

All of Us Research Program, National Institutes of Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Feb 5, 2024)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	19	not provided	not provided	108544	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 All of Us Research Program, National Institutes of Health, SCV004839685.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	19	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	108544	not provided	not provided		19	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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