NM_000038.6(APC):c.7822G>A (p.Ala2608Thr) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Aug 1, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001559106.13

Allele description [Variation Report for NM_000038.6(APC):c.7822G>A (p.Ala2608Thr)]

NM_000038.6(APC):c.7822G>A (p.Ala2608Thr)

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.7822G>A (p.Ala2608Thr)
HGVS:
  • NC_000005.10:g.112843416G>A
  • NG_008481.4:g.155896G>A
  • NM_000038.6:c.7822G>AMANE SELECT
  • NM_001127510.3:c.7822G>A
  • NM_001127511.3:c.7768G>A
  • NM_001354895.2:c.7822G>A
  • NM_001354896.2:c.7876G>A
  • NM_001354897.2:c.7852G>A
  • NM_001354898.2:c.7747G>A
  • NM_001354899.2:c.7738G>A
  • NM_001354900.2:c.7699G>A
  • NM_001354901.2:c.7645G>A
  • NM_001354902.2:c.7549G>A
  • NM_001354903.2:c.7519G>A
  • NM_001354904.2:c.7444G>A
  • NM_001354905.2:c.7342G>A
  • NM_001354906.2:c.6973G>A
  • NP_000029.2:p.Ala2608Thr
  • NP_001120982.1:p.Ala2608Thr
  • NP_001120983.2:p.Ala2590Thr
  • NP_001341824.1:p.Ala2608Thr
  • NP_001341825.1:p.Ala2626Thr
  • NP_001341826.1:p.Ala2618Thr
  • NP_001341827.1:p.Ala2583Thr
  • NP_001341828.1:p.Ala2580Thr
  • NP_001341829.1:p.Ala2567Thr
  • NP_001341830.1:p.Ala2549Thr
  • NP_001341831.1:p.Ala2517Thr
  • NP_001341832.1:p.Ala2507Thr
  • NP_001341833.1:p.Ala2482Thr
  • NP_001341834.1:p.Ala2448Thr
  • NP_001341835.1:p.Ala2325Thr
  • LRG_130:g.155896G>A
  • NC_000005.9:g.112179113G>A
  • NM_000038.5:c.7822G>A
Protein change:
A2325T
Links:
dbSNP: rs878853471
NCBI 1000 Genomes Browser:
rs878853471
Molecular consequence:
  • NM_000038.6:c.7822G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127510.3:c.7822G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127511.3:c.7768G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354895.2:c.7822G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354896.2:c.7876G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354897.2:c.7852G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354898.2:c.7747G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354899.2:c.7738G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354900.2:c.7699G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354901.2:c.7645G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354902.2:c.7549G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354903.2:c.7519G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354904.2:c.7444G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354905.2:c.7342G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354906.2:c.6973G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001781184GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Uncertain significance
(Feb 22, 2022)
germlineclinical testing

Citation Link,

SCV005331238CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Uncertain significance
(Aug 1, 2024)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001781184.3

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 18199528)

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

From CeGaT Center for Human Genetics Tuebingen, SCV005331238.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024