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NM_000038.6(APC):c.3798T>C (p.Asp1266=) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 10, 2017
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:
RCV000571720.2

Allele description

NM_000038.6(APC):c.3798T>C (p.Asp1266=)

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.3798T>C (p.Asp1266=)
HGVS:
  • NC_000005.10:g.112839392T>C
  • NG_008481.4:g.151872T>C
  • NM_000038.6:c.3798T>CMANE SELECT
  • NM_001127510.3:c.3798T>C
  • NM_001127511.3:c.3744T>C
  • NM_001354895.2:c.3798T>C
  • NM_001354896.2:c.3852T>C
  • NM_001354897.2:c.3828T>C
  • NM_001354898.2:c.3723T>C
  • NM_001354899.2:c.3714T>C
  • NM_001354900.2:c.3675T>C
  • NM_001354901.2:c.3621T>C
  • NM_001354902.2:c.3525T>C
  • NM_001354903.2:c.3495T>C
  • NM_001354904.2:c.3420T>C
  • NM_001354905.2:c.3318T>C
  • NM_001354906.2:c.2949T>C
  • NP_000029.2:p.Asp1266=
  • NP_001120982.1:p.Asp1266=
  • NP_001120983.2:p.Asp1248=
  • NP_001341824.1:p.Asp1266=
  • NP_001341825.1:p.Asp1284=
  • NP_001341826.1:p.Asp1276=
  • NP_001341827.1:p.Asp1241=
  • NP_001341828.1:p.Asp1238=
  • NP_001341829.1:p.Asp1225=
  • NP_001341830.1:p.Asp1207=
  • NP_001341831.1:p.Asp1175=
  • NP_001341832.1:p.Asp1165=
  • NP_001341833.1:p.Asp1140=
  • NP_001341834.1:p.Asp1106=
  • NP_001341835.1:p.Asp983=
  • LRG_130:g.151872T>C
  • NC_000005.9:g.112175089T>C
  • NM_000038.5:c.3798T>C
Links:
dbSNP: rs1488397941
NCBI 1000 Genomes Browser:
rs1488397941
Molecular consequence:
  • NM_000038.6:c.3798T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001127510.3:c.3798T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001127511.3:c.3744T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354895.2:c.3798T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354896.2:c.3852T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354897.2:c.3828T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354898.2:c.3723T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354899.2:c.3714T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354900.2:c.3675T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354901.2:c.3621T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354902.2:c.3525T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354903.2:c.3495T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354904.2:c.3420T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354905.2:c.3318T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354906.2:c.2949T>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

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
SCV000672590Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))		Likely benign
(Mar 10, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000672590.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Synonymous alterations with insufficient evidence to classify as benign

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

Last Updated: Nov 19, 2022