NM_000038.6(APC):c.4669A>G (p.Ile1557Val) AND Hereditary cancer-predisposing syndrome

Clinical significance:Likely benign (Last evaluated: Mar 19, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:

Allele description [Variation Report for NM_000038.6(APC):c.4669A>G (p.Ile1557Val)]

NM_000038.6(APC):c.4669A>G (p.Ile1557Val)

APC:APC regulator of WNT signaling pathway [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000038.6(APC):c.4669A>G (p.Ile1557Val)
  • NC_000005.10:g.112840263A>G
  • NG_008481.4:g.152743A>G
  • NM_000038.6:c.4669A>GMANE SELECT
  • NM_001127510.3:c.4669A>G
  • NM_001127511.3:c.4615A>G
  • NM_001354895.2:c.4669A>G
  • NM_001354896.2:c.4723A>G
  • NM_001354897.2:c.4699A>G
  • NM_001354898.2:c.4594A>G
  • NM_001354899.2:c.4585A>G
  • NM_001354900.2:c.4546A>G
  • NM_001354901.2:c.4492A>G
  • NM_001354902.2:c.4396A>G
  • NM_001354903.2:c.4366A>G
  • NM_001354904.2:c.4291A>G
  • NM_001354905.2:c.4189A>G
  • NM_001354906.2:c.3820A>G
  • NP_000029.2:p.Ile1557Val
  • NP_001120982.1:p.Ile1557Val
  • NP_001120983.2:p.Ile1539Val
  • NP_001341824.1:p.Ile1557Val
  • NP_001341825.1:p.Ile1575Val
  • NP_001341826.1:p.Ile1567Val
  • NP_001341827.1:p.Ile1532Val
  • NP_001341828.1:p.Ile1529Val
  • NP_001341829.1:p.Ile1516Val
  • NP_001341830.1:p.Ile1498Val
  • NP_001341831.1:p.Ile1466Val
  • NP_001341832.1:p.Ile1456Val
  • NP_001341833.1:p.Ile1431Val
  • NP_001341834.1:p.Ile1397Val
  • NP_001341835.1:p.Ile1274Val
  • LRG_130:g.152743A>G
  • NC_000005.9:g.112175960A>G
  • NM_000038.5:c.4669A>G
Protein change:
dbSNP: rs763578917
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000038.6:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127510.3:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127511.3:c.4615A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354895.2:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354896.2:c.4723A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354897.2:c.4699A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354898.2:c.4594A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354899.2:c.4585A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354900.2:c.4546A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354901.2:c.4492A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354902.2:c.4396A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354903.2:c.4366A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354904.2:c.4291A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354905.2:c.4189A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354906.2:c.3820A>G - missense variant - [Sequence Ontology: SO:0001583]


Hereditary cancer-predisposing syndrome
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
MONDO: MONDO:0015356; MedGen: C0027672

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000579816Ambry Geneticscriteria provided, single submitter
Likely benign
(Mar 19, 2019)
germlineclinical testing

Citation Link,

SCV000910831Color Health, Inccriteria provided, single submitter
Likely benign
(Jan 4, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod



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]

Details of each submission

From Ambry Genetics, SCV000579816.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided


Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;In silico models in agreement (benign);Other strong data supporting benign classification

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

From Color Health, Inc, SCV000910831.1

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

Last Updated: Jun 14, 2021

Support Center