NM_000038.6(APC):c.5981A>T (p.Asp1994Val) AND Hereditary cancer-predisposing syndrome

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: May 18, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000571074.5

Allele description [Variation Report for NM_000038.6(APC):c.5981A>T (p.Asp1994Val)]

NM_000038.6(APC):c.5981A>T (p.Asp1994Val)

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.5981A>T (p.Asp1994Val)
HGVS:
  • NC_000005.10:g.112841575A>T
  • NG_008481.4:g.154055A>T
  • NM_000038.6:c.5981A>TMANE SELECT
  • NM_001127510.3:c.5981A>T
  • NM_001127511.3:c.5927A>T
  • NM_001354895.2:c.5981A>T
  • NM_001354896.2:c.6035A>T
  • NM_001354897.2:c.6011A>T
  • NM_001354898.2:c.5906A>T
  • NM_001354899.2:c.5897A>T
  • NM_001354900.2:c.5858A>T
  • NM_001354901.2:c.5804A>T
  • NM_001354902.2:c.5708A>T
  • NM_001354903.2:c.5678A>T
  • NM_001354904.2:c.5603A>T
  • NM_001354905.2:c.5501A>T
  • NM_001354906.2:c.5132A>T
  • NP_000029.2:p.Asp1994Val
  • NP_001120982.1:p.Asp1994Val
  • NP_001120983.2:p.Asp1976Val
  • NP_001341824.1:p.Asp1994Val
  • NP_001341825.1:p.Asp2012Val
  • NP_001341826.1:p.Asp2004Val
  • NP_001341827.1:p.Asp1969Val
  • NP_001341828.1:p.Asp1966Val
  • NP_001341829.1:p.Asp1953Val
  • NP_001341830.1:p.Asp1935Val
  • NP_001341831.1:p.Asp1903Val
  • NP_001341832.1:p.Asp1893Val
  • NP_001341833.1:p.Asp1868Val
  • NP_001341834.1:p.Asp1834Val
  • NP_001341835.1:p.Asp1711Val
  • LRG_130:g.154055A>T
  • NC_000005.9:g.112177272A>T
  • NM_000038.5:c.5981A>T
Protein change:
D1711V
Links:
dbSNP: rs774815653
NCBI 1000 Genomes Browser:
rs774815653
Molecular consequence:
  • NM_000038.6:c.5981A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127510.3:c.5981A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127511.3:c.5927A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354895.2:c.5981A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354896.2:c.6035A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354897.2:c.6011A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354898.2:c.5906A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354899.2:c.5897A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354900.2:c.5858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354901.2:c.5804A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354902.2:c.5708A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354903.2:c.5678A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354904.2:c.5603A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354905.2:c.5501A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354906.2:c.5132A>T - 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; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000675863Ambry Geneticscriteria provided, single submitter
Likely benign
(May 18, 2020)
germlineclinical testing

Citation Link,

SCV000903336Color Health, Inccriteria provided, single submitter
Uncertain significance
(May 30, 2019)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Ambry Genetics, SCV000675863.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

In silico models in agreement (benign);RNA Studies;Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

From Color Health, Inc, SCV000903336.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 6, 2021

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