NM_000038.6(APC):c.6181G>A (p.Glu2061Lys) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 22, 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:: RCV004522958.1

Allele description [Variation Report for NM_000038.6(APC):c.6181G>A (p.Glu2061Lys)]

NM_000038.6(APC):c.6181G>A (p.Glu2061Lys)

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.6181G>A (p.Glu2061Lys)

HGVS:

NC_000005.10:g.112841775G>A
NG_008481.4:g.154255G>A
NM_000038.6:c.6181G>AMANE SELECT
NM_001127510.3:c.6181G>A
NM_001127511.3:c.6127G>A
NM_001354895.2:c.6181G>A
NM_001354896.2:c.6235G>A
NM_001354897.2:c.6211G>A
NM_001354898.2:c.6106G>A
NM_001354899.2:c.6097G>A
NM_001354900.2:c.6058G>A
NM_001354901.2:c.6004G>A
NM_001354902.2:c.5908G>A
NM_001354903.2:c.5878G>A
NM_001354904.2:c.5803G>A
NM_001354905.2:c.5701G>A
NM_001354906.2:c.5332G>A
NM_001407446.1:c.6265G>A
NM_001407447.1:c.6235G>A
NM_001407448.1:c.6235G>A
NM_001407449.1:c.6235G>A
NM_001407450.1:c.6181G>A
NM_001407451.1:c.6160G>A
NM_001407452.1:c.6151G>A
NM_001407453.1:c.6004G>A
NM_001407454.1:c.5932G>A
NM_001407455.1:c.5932G>A
NM_001407456.1:c.5932G>A
NM_001407457.1:c.5932G>A
NM_001407458.1:c.5878G>A
NM_001407459.1:c.5878G>A
NM_001407460.1:c.5878G>A
NM_001407467.1:c.5794G>A
NM_001407469.1:c.5794G>A
NM_001407470.1:c.5332G>A
NM_001407471.1:c.5029G>A
NM_001407472.1:c.5029G>A
NP_000029.2:p.Glu2061Lys
NP_000029.2:p.Glu2061Lys
NP_001120982.1:p.Glu2061Lys
NP_001120982.1:p.Glu2061Lys
NP_001120983.1:p.Glu2061Lys
NP_001120983.2:p.Glu2043Lys
NP_001341824.1:p.Glu2061Lys
NP_001341825.1:p.Glu2079Lys
NP_001341826.1:p.Glu2071Lys
NP_001341827.1:p.Glu2036Lys
NP_001341828.1:p.Glu2033Lys
NP_001341829.1:p.Glu2020Lys
NP_001341830.1:p.Glu2002Lys
NP_001341831.1:p.Glu1970Lys
NP_001341832.1:p.Glu1960Lys
NP_001341833.1:p.Glu1935Lys
NP_001341834.1:p.Glu1901Lys
NP_001341835.1:p.Glu1778Lys
NP_001394375.1:p.Glu2089Lys
NP_001394376.1:p.Glu2079Lys
NP_001394377.1:p.Glu2079Lys
NP_001394378.1:p.Glu2079Lys
NP_001394379.1:p.Glu2061Lys
NP_001394380.1:p.Glu2054Lys
NP_001394381.1:p.Glu2051Lys
NP_001394382.1:p.Glu2002Lys
NP_001394383.1:p.Glu1978Lys
NP_001394384.1:p.Glu1978Lys
NP_001394385.1:p.Glu1978Lys
NP_001394386.1:p.Glu1978Lys
NP_001394387.1:p.Glu1960Lys
NP_001394388.1:p.Glu1960Lys
NP_001394389.1:p.Glu1960Lys
NP_001394396.1:p.Glu1932Lys
NP_001394398.1:p.Glu1932Lys
NP_001394399.1:p.Glu1778Lys
NP_001394400.1:p.Glu1677Lys
NP_001394401.1:p.Glu1677Lys
LRG_130t1:c.6181G>A
LRG_130t2:c.6181G>A
LRG_130t3:c.6181G>A
LRG_130:g.154255G>A
LRG_130p1:p.Glu2061Lys
LRG_130p2:p.Glu2061Lys
LRG_130p3:p.Glu2061Lys
NC_000005.9:g.112177472G>A
NM_000038.4:c.6181G>A
NM_000038.5:c.6181G>A
NM_001127510.1:c.6181G>A
NM_001127511.1:c.6181G>A
NR_176365.1:n.6016G>A
NR_176366.1:n.6435G>A

Protein change:

E1677K

Molecular consequence:

NM_000038.6:c.6181G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127510.3:c.6181G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127511.3:c.6127G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354895.2:c.6181G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354896.2:c.6235G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354897.2:c.6211G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354898.2:c.6106G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354899.2:c.6097G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354900.2:c.6058G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354901.2:c.6004G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354902.2:c.5908G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354903.2:c.5878G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354904.2:c.5803G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354905.2:c.5701G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354906.2:c.5332G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407446.1:c.6265G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407447.1:c.6235G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407448.1:c.6235G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407449.1:c.6235G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407450.1:c.6181G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407451.1:c.6160G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407452.1:c.6151G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407453.1:c.6004G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407454.1:c.5932G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407455.1:c.5932G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407456.1:c.5932G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407457.1:c.5932G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407458.1:c.5878G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407459.1:c.5878G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407460.1:c.5878G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407467.1:c.5794G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407469.1:c.5794G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407470.1:c.5332G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407471.1:c.5029G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407472.1:c.5029G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_176365.1:n.6016G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176366.1:n.6435G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV005033558	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 22, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005033558

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 22, 2023)

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

Details of each submission

From Ambry Genetics, SCV005033558.1

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

Description

The p.E2061K variant (also known as c.6181G>A), located in coding exon 15 of the APC gene, results from a G to A substitution at nucleotide position 6181. The glutamic acid at codon 2061 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, in silico predictors for this gene do not accurately predict pathogenicity. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: May 7, 2024

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Relating variation to medicine