NM_000038.6(APC):c.4813G>A (p.Val1605Met) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 1, 2017
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:: RCV000506358.9

Allele description [Variation Report for NM_000038.6(APC):c.4813G>A (p.Val1605Met)]

NM_000038.6(APC):c.4813G>A (p.Val1605Met)

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.4813G>A (p.Val1605Met)

HGVS:

NC_000005.10:g.112840407G>A
NG_008481.4:g.152887G>A
NM_000038.6:c.4813G>AMANE SELECT
NM_001127510.3:c.4813G>A
NM_001127511.3:c.4759G>A
NM_001354895.2:c.4813G>A
NM_001354896.2:c.4867G>A
NM_001354897.2:c.4843G>A
NM_001354898.2:c.4738G>A
NM_001354899.2:c.4729G>A
NM_001354900.2:c.4690G>A
NM_001354901.2:c.4636G>A
NM_001354902.2:c.4540G>A
NM_001354903.2:c.4510G>A
NM_001354904.2:c.4435G>A
NM_001354905.2:c.4333G>A
NM_001354906.2:c.3964G>A
NP_000029.2:p.Val1605Met
NP_001120982.1:p.Val1605Met
NP_001120983.2:p.Val1587Met
NP_001341824.1:p.Val1605Met
NP_001341825.1:p.Val1623Met
NP_001341826.1:p.Val1615Met
NP_001341827.1:p.Val1580Met
NP_001341828.1:p.Val1577Met
NP_001341829.1:p.Val1564Met
NP_001341830.1:p.Val1546Met
NP_001341831.1:p.Val1514Met
NP_001341832.1:p.Val1504Met
NP_001341833.1:p.Val1479Met
NP_001341834.1:p.Val1445Met
NP_001341835.1:p.Val1322Met
LRG_130:g.152887G>A
NC_000005.9:g.112176104G>A
NM_000038.5:c.4813G>A

Protein change:

V1322M

Links:

dbSNP: rs1554086219

NCBI 1000 Genomes Browser:

rs1554086219

Molecular consequence:

NM_000038.6:c.4813G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127510.3:c.4813G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127511.3:c.4759G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354895.2:c.4813G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354896.2:c.4867G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354897.2:c.4843G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354898.2:c.4738G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354899.2:c.4729G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354900.2:c.4690G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354901.2:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354902.2:c.4540G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354903.2:c.4510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354904.2:c.4435G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354905.2:c.4333G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354906.2:c.3964G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000600105	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (Mar 1, 2017)	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

SCV000600105

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(Mar 1, 2017)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000600105.2

#	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

Last Updated: Nov 10, 2024

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