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NM_000038.6(APC):c.7652A>T (p.His2551Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 29, 2018)
Last evaluated:
Jan 4, 2018
Accession:
VCV000411452.1
Variation ID:
411452
Description:
single nucleotide variant
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NM_000038.6(APC):c.7652A>T (p.His2551Leu)

Allele ID
394456
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q22.2
Genomic location
5: 112843246 (GRCh38) GRCh38 UCSC
5: 112178943 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.112843246A>T
NC_000005.9:g.112178943A>T
NM_000038.6:c.7652A>T NP_000029.2:p.His2551Leu missense
... more HGVS
Protein change
H2533L
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16037955
dbSNP: rs1060503314
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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 Sep 11, 2016 RCV000464028.1
Uncertain significance 1 criteria provided, single submitter Jan 4, 2018 RCV000679085.1
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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
(Sep 11, 2016)
criteria provided, single submitter
Method: clinical testing
Familial adenomatous polyposis 1
Allele origin: germline
Invitae
Accession: SCV000552613.2
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change replaces histidine with leucine at codon 2551 of the APC protein (p.His2551Leu). The histidine residue is highly conserved and there is a ... (more)
Uncertain significance
(Jan 04, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000805468.1
Submitted: (Jan 29, 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 09, 2020