NM_000038.6(APC):c.7125A>C (p.Gln2375His) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 25, 2021
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:: RCV002374932.9

Allele description [Variation Report for NM_000038.6(APC):c.7125A>C (p.Gln2375His)]

NM_000038.6(APC):c.7125A>C (p.Gln2375His)

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.7125A>C (p.Gln2375His)

HGVS:

NC_000005.10:g.112842719A>C
NG_008481.4:g.155199A>C
NM_000038.6:c.7125A>CMANE SELECT
NM_001127510.3:c.7125A>C
NM_001127511.3:c.7071A>C
NM_001354895.2:c.7125A>C
NM_001354896.2:c.7179A>C
NM_001354897.2:c.7155A>C
NM_001354898.2:c.7050A>C
NM_001354899.2:c.7041A>C
NM_001354900.2:c.7002A>C
NM_001354901.2:c.6948A>C
NM_001354902.2:c.6852A>C
NM_001354903.2:c.6822A>C
NM_001354904.2:c.6747A>C
NM_001354905.2:c.6645A>C
NM_001354906.2:c.6276A>C
NP_000029.2:p.Gln2375His
NP_001120982.1:p.Gln2375His
NP_001120983.2:p.Gln2357His
NP_001341824.1:p.Gln2375His
NP_001341825.1:p.Gln2393His
NP_001341826.1:p.Gln2385His
NP_001341827.1:p.Gln2350His
NP_001341828.1:p.Gln2347His
NP_001341829.1:p.Gln2334His
NP_001341830.1:p.Gln2316His
NP_001341831.1:p.Gln2284His
NP_001341832.1:p.Gln2274His
NP_001341833.1:p.Gln2249His
NP_001341834.1:p.Gln2215His
NP_001341835.1:p.Gln2092His
LRG_130:g.155199A>C
NC_000005.9:g.112178416A>C
NM_000038.5:c.7125A>C

Protein change:

Q2092H

Links:

dbSNP: rs587780603

NCBI 1000 Genomes Browser:

rs587780603

Molecular consequence:

NM_000038.6:c.7125A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001127510.3:c.7125A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001127511.3:c.7071A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354895.2:c.7125A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354896.2:c.7179A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354897.2:c.7155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354898.2:c.7050A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354899.2:c.7041A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354900.2:c.7002A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354901.2:c.6948A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354902.2:c.6852A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354903.2:c.6822A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354904.2:c.6747A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354905.2:c.6645A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354906.2:c.6276A>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

Recent activity

Clear Turn Off Turn On

Mus musculus YdjC homolog (bacterial) (Ydjc), transcript variant 1, mRNA
Mus musculus YdjC homolog (bacterial) (Ydjc), transcript variant 1, mRNA
gi|326693950|ref|NM_026940.4|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002667914	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 25, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002667914

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 25, 2021)

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, SCV002667914.2

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

Description

The p.Q2375H variant (also known as c.7125A>C), located in coding exon 15 of the APC gene, results from an A to C substitution at nucleotide position 7125. The glutamine at codon 2375 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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 26, 2024

ClinVar

Relating variation to medicine