NM_001127511.3(APC):c.-3C>A AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Dec 30, 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:: RCV000679420.13

Allele description [Variation Report for NM_001127511.3(APC):c.-3C>A]

NM_001127511.3(APC):c.-3C>A

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_001127511.3(APC):c.-3C>A

HGVS:

NC_000005.10:g.112707715C>A
NG_008481.4:g.20195C>A
NM_001127511.3:c.-3C>A
NM_001354895.2:c.-186C>A
NM_001354897.2:c.-3C>A
NM_001354902.2:c.-3C>A
NM_001407446.1:c.-3C>A
NM_001407447.1:c.-186C>A
NM_001407448.1:c.-19+66C>A
NM_001407450.1:c.-19+66C>A
NM_001407452.1:c.-186C>A
NM_001407453.1:c.-43+66C>A
NM_001407456.1:c.-186C>A
NM_001407457.1:c.-19+66C>A
NM_001407458.1:c.-19+66C>A
NM_001407460.1:c.-186C>A
NM_001407469.1:c.-186C>A
NM_001407470.1:c.-1221C>A
NM_001407472.1:c.-1221C>A
LRG_130t3:c.-186C>A
LRG_130:g.20195C>A
NC_000005.9:g.112043412C>A
NM_001127511.1:c.-186C>A
NM_001127511.2:c.-3C>A
NR_176366.1:n.218C>A

Links:

dbSNP: rs771410311

NCBI 1000 Genomes Browser:

rs771410311

Molecular consequence:

NM_001127511.3:c.-3C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354895.2:c.-186C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354897.2:c.-3C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354902.2:c.-3C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407446.1:c.-3C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407447.1:c.-186C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407452.1:c.-186C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407456.1:c.-186C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407460.1:c.-186C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407469.1:c.-186C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407470.1:c.-1221C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407472.1:c.-1221C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407448.1:c.-19+66C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407450.1:c.-19+66C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407453.1:c.-43+66C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407457.1:c.-19+66C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407458.1:c.-19+66C>A - intron variant - [Sequence Ontology: SO:0001627]
NR_176366.1:n.218C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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spindlin [Homo sapiens]
spindlin [Homo sapiens]
gi|5730065|ref|NP_006708.1|

Protein
NP_706367 (1)
Identical Protein Groups
cytochrome c oxidase subunit I, partial (mitochondrion) [Rhinolophus rex]
cytochrome c oxidase subunit I, partial (mitochondrion) [Rhinolophus rex]
gi|2462786878|gb|WES14502.1|

Protein
PREDICTED: Glycine max dof zinc finger protein DOF5.3 (LOC100800420), mRNA
PREDICTED: Glycine max dof zinc finger protein DOF5.3 (LOC100800420), mRNA
gi|2027494254|ref|XM_003537324.5|

Nucleotide
cannabinoid receptor 1 [Rattus norvegicus]
cannabinoid receptor 1 [Rattus norvegicus]
gi|6978673|ref|NP_036916.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000806330	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Dec 30, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000806330

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Dec 30, 2016)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

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 PreventionGenetics, part of Exact Sciences, SCV000806330.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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