NM_000038.6(APC):c.7849G>C (p.Glu2617Gln) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 26, 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:: RCV004028715.1

Allele description [Variation Report for NM_000038.6(APC):c.7849G>C (p.Glu2617Gln)]

NM_000038.6(APC):c.7849G>C (p.Glu2617Gln)

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.7849G>C (p.Glu2617Gln)

HGVS:

NC_000005.10:g.112843443G>C
NG_008481.4:g.155923G>C
NM_000038.6:c.7849G>CMANE SELECT
NM_001127510.3:c.7849G>C
NM_001127511.3:c.7795G>C
NM_001354895.2:c.7849G>C
NM_001354896.2:c.7903G>C
NM_001354897.2:c.7879G>C
NM_001354898.2:c.7774G>C
NM_001354899.2:c.7765G>C
NM_001354900.2:c.7726G>C
NM_001354901.2:c.7672G>C
NM_001354902.2:c.7576G>C
NM_001354903.2:c.7546G>C
NM_001354904.2:c.7471G>C
NM_001354905.2:c.7369G>C
NM_001354906.2:c.7000G>C
NP_000029.2:p.Glu2617Gln
NP_001120982.1:p.Glu2617Gln
NP_001120983.2:p.Glu2599Gln
NP_001341824.1:p.Glu2617Gln
NP_001341825.1:p.Glu2635Gln
NP_001341826.1:p.Glu2627Gln
NP_001341827.1:p.Glu2592Gln
NP_001341828.1:p.Glu2589Gln
NP_001341829.1:p.Glu2576Gln
NP_001341830.1:p.Glu2558Gln
NP_001341831.1:p.Glu2526Gln
NP_001341832.1:p.Glu2516Gln
NP_001341833.1:p.Glu2491Gln
NP_001341834.1:p.Glu2457Gln
NP_001341835.1:p.Glu2334Gln
LRG_130:g.155923G>C
NC_000005.9:g.112179140G>C
NM_000038.5:c.7849G>C

Protein change:

E2334Q

Links:

dbSNP: rs1580687234

NCBI 1000 Genomes Browser:

rs1580687234

Molecular consequence:

NM_000038.6:c.7849G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001127510.3:c.7849G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001127511.3:c.7795G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354895.2:c.7849G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354896.2:c.7903G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354897.2:c.7879G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354898.2:c.7774G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354899.2:c.7765G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354900.2:c.7726G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354901.2:c.7672G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354902.2:c.7576G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354903.2:c.7546G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354904.2:c.7471G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354905.2:c.7369G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354906.2:c.7000G>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV005034786	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 26, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005034786

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 26, 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, SCV005034786.1

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

Description

The p.E2617Q variant (also known as c.7849G>C), located in coding exon 15 of the APC gene, results from a G to C substitution at nucleotide position 7849. The glutamic acid at codon 2617 is replaced by glutamine, an amino acid with highly 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: Oct 13, 2024

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