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NM_000038.6(APC):c.800G>C (p.Gly267Ala)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 25, 2018)
Last evaluated:
Jun 23, 2017
Accession:
VCV000495375.1
Variation ID:
495375
Description:
single nucleotide variant
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NM_000038.6(APC):c.800G>C (p.Gly267Ala)

Allele ID
487092
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q22.2
Genomic location
5: 112801349 (GRCh38) GRCh38 UCSC
5: 112137046 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.112801349G>C
NC_000005.9:g.112137046G>C
NM_001127510.3:c.800G>C NP_001120982.1:p.Gly267Ala missense
... more HGVS
Protein change
G249A
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs747759906
ClinGen: CA16023079
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 23, 2017 RCV000586621.1
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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
Uncertain significance
(Jun 23, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Integrated Genetics/Laboratory Corporation of America
Accession: SCV000694132.1
Submitted: (Jan 25, 2018)
Evidence details
Comment:
Variant summary: The APC c.800G>C (p.Gly267Ala) variant involves the alteration of a conserved nucleotide, resulting in a missense change within the pyridoxal phosphate-dependent transferase, major ... (more)

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 14, 2020