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NM_000038.6(APC):c.7213A>C (p.Asn2405His) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 16, 2016
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:
RCV000574566.3

Allele description [Variation Report for NM_000038.6(APC):c.7213A>C (p.Asn2405His)]

NM_000038.6(APC):c.7213A>C (p.Asn2405His)

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.7213A>C (p.Asn2405His)
HGVS:
  • NC_000005.10:g.112842807A>C
  • NG_008481.4:g.155287A>C
  • NM_000038.6:c.7213A>CMANE SELECT
  • NM_001127510.3:c.7213A>C
  • NM_001127511.3:c.7159A>C
  • NM_001354895.2:c.7213A>C
  • NM_001354896.2:c.7267A>C
  • NM_001354897.2:c.7243A>C
  • NM_001354898.2:c.7138A>C
  • NM_001354899.2:c.7129A>C
  • NM_001354900.2:c.7090A>C
  • NM_001354901.2:c.7036A>C
  • NM_001354902.2:c.6940A>C
  • NM_001354903.2:c.6910A>C
  • NM_001354904.2:c.6835A>C
  • NM_001354905.2:c.6733A>C
  • NM_001354906.2:c.6364A>C
  • NP_000029.2:p.Asn2405His
  • NP_001120982.1:p.Asn2405His
  • NP_001120983.2:p.Asn2387His
  • NP_001341824.1:p.Asn2405His
  • NP_001341825.1:p.Asn2423His
  • NP_001341826.1:p.Asn2415His
  • NP_001341827.1:p.Asn2380His
  • NP_001341828.1:p.Asn2377His
  • NP_001341829.1:p.Asn2364His
  • NP_001341830.1:p.Asn2346His
  • NP_001341831.1:p.Asn2314His
  • NP_001341832.1:p.Asn2304His
  • NP_001341833.1:p.Asn2279His
  • NP_001341834.1:p.Asn2245His
  • NP_001341835.1:p.Asn2122His
  • LRG_130:g.155287A>C
  • NC_000005.9:g.112178504A>C
  • NM_000038.5:c.7213A>C
Protein change:
N2122H
Links:
dbSNP: rs1554088132
NCBI 1000 Genomes Browser:
rs1554088132
Molecular consequence:
  • NM_000038.6:c.7213A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127510.3:c.7213A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127511.3:c.7159A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354895.2:c.7213A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354896.2:c.7267A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354897.2:c.7243A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354898.2:c.7138A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354899.2:c.7129A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354900.2:c.7090A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354901.2:c.7036A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354902.2:c.6940A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354903.2:c.6910A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354904.2:c.6835A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354905.2:c.6733A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354906.2:c.6364A>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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000667676Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 16, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV000667676.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.N2405H variant (also known as c.7213A>C), located in coding exon 15 of the APC gene, results from an A to C substitution at nucleotide position 7213. The asparagine at codon 2405 is replaced by histidine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6502 samples (13004 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 90000 alleles tested) in our clinical cohort. This amino acid position is poorly 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024