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NM_000038.6(APC):c.3868A>G (p.Asn1290Asp)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Nov 30, 2020)
Last evaluated:
Jan 18, 2019
Accession:
VCV000630119.4
Variation ID:
630119
Description:
single nucleotide variant
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NM_000038.6(APC):c.3868A>G (p.Asn1290Asp)

Allele ID
617134
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q22.2
Genomic location
5: 112839462 (GRCh38) GRCh38 UCSC
5: 112175159 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.112839462A>G
NC_000005.9:g.112175159A>G
NM_000038.6:c.3868A>G MANE Select NP_000029.2:p.Asn1290Asp missense
... more HGVS
Protein change
N1272D, N1290D, N1007D, N1262D, N1164D, N1231D, N1249D, N1265D, N1308D, N1130D, N1189D, N1199D, N1300D
Other names
-
Canonical SPDI
NC_000005.10:112839461:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Links
dbSNP: rs752977559
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jan 18, 2019 RCV000775142.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
APC Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
8955 8989

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 18, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000909264.2
Submitted: (May 19, 2020)
Evidence details
Likely benign
(Jan 11, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001182921.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
In silico models in agreement (benign);Other data supporting benign classification

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs752977559...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated May 13, 2021