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NM_000038.6(APC):c.735A>G (p.Ser245=)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jul 30, 2018)
Last evaluated:
Nov 16, 2017
Accession:
VCV000231845.1
Variation ID:
231845
Description:
single nucleotide variant
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NM_000038.6(APC):c.735A>G (p.Ser245=)

Allele ID
233002
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q22.2
Genomic location
5: 112801284 (GRCh38) GRCh38 UCSC
5: 112136981 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.112801284A>G
NC_000005.9:g.112136981A>G
NM_001354895.2:c.735A>G NP_001341824.1:p.Ser245= synonymous
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10578298
dbSNP: rs876659397
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter May 15, 2015 RCV000216353.1
Likely benign 1 criteria provided, single submitter Nov 16, 2017 RCV000646566.1
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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
6125 6156

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Nov 16, 2017)
criteria provided, single submitter
Method: clinical testing
Familial adenomatous polyposis 1
Allele origin: germline
Invitae
Accession: SCV000768340.1
Submitted: (Apr 02, 2018)
Evidence details
Likely benign
(May 15, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000275820.4
Submitted: (Jul 30, 2018)
Evidence details

Citations for this variant

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

Record last updated Jan 24, 2020