NM_000038.6(APC):c.5839A>G (p.Thr1947Ala) AND Familial adenomatous polyposis 1

delete

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 16, 2023
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:: RCV003316023.8

Allele description

NM_000038.6(APC):c.5839A>G (p.Thr1947Ala)

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.5839A>G (p.Thr1947Ala)

HGVS:

NC_000005.10:g.112841433A>G
NG_008481.4:g.153913A>G
NM_000038.6:c.5839A>GMANE SELECT
NM_001127510.3:c.5839A>G
NM_001127511.3:c.5785A>G
NM_001354895.2:c.5839A>G
NM_001354896.2:c.5893A>G
NM_001354897.2:c.5869A>G
NM_001354898.2:c.5764A>G
NM_001354899.2:c.5755A>G
NM_001354900.2:c.5716A>G
NM_001354901.2:c.5662A>G
NM_001354902.2:c.5566A>G
NM_001354903.2:c.5536A>G
NM_001354904.2:c.5461A>G
NM_001354905.2:c.5359A>G
NM_001354906.2:c.4990A>G
NP_000029.2:p.Thr1947Ala
NP_001120982.1:p.Thr1947Ala
NP_001120983.2:p.Thr1929Ala
NP_001341824.1:p.Thr1947Ala
NP_001341825.1:p.Thr1965Ala
NP_001341826.1:p.Thr1957Ala
NP_001341827.1:p.Thr1922Ala
NP_001341828.1:p.Thr1919Ala
NP_001341829.1:p.Thr1906Ala
NP_001341830.1:p.Thr1888Ala
NP_001341831.1:p.Thr1856Ala
NP_001341832.1:p.Thr1846Ala
NP_001341833.1:p.Thr1821Ala
NP_001341834.1:p.Thr1787Ala
NP_001341835.1:p.Thr1664Ala
LRG_130:g.153913A>G
NC_000005.9:g.112177130A>G
NM_000038.5:c.5839A>G
p.T1947A

Protein change:

T1664A

Links:

dbSNP: rs746346292

NCBI 1000 Genomes Browser:

rs746346292

Molecular consequence:

NM_000038.6:c.5839A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127510.3:c.5839A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127511.3:c.5785A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354895.2:c.5839A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354896.2:c.5893A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354897.2:c.5869A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354898.2:c.5764A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354899.2:c.5755A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354900.2:c.5716A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354901.2:c.5662A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354902.2:c.5566A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354903.2:c.5536A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354904.2:c.5461A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354905.2:c.5359A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354906.2:c.4990A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Familial adenomatous polyposis 1 (FAP1)
Synonyms:: POLYPOSIS, ADENOMATOUS INTESTINAL; FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED; APC-Associated Polyposis Conditions
Identifiers:: MONDO: MONDO:0021056; MedGen: C2713442; OMIM: 175100

Recent activity

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Bardet-Biedl syndrome 10 protein [Acinonyx jubatus]
Bardet-Biedl syndrome 10 protein [Acinonyx jubatus]
gi|2437716404|ref|XP_053082491.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004017836	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Uncertain significance (Feb 16, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004017836

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Uncertain significance
(Feb 16, 2023)

unknown

clinical testing

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Myriad Genetics, Inc., SCV004017836.1

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

Description

This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

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

Last Updated: Jun 2, 2024

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