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NM_003664.4(AP3B1):c.2239A>G (p.Lys747Glu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Aug 17, 2018
Accession:
VCV000641489.1
Variation ID:
641489
Description:
single nucleotide variant
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NM_003664.4(AP3B1):c.2239A>G (p.Lys747Glu)

Allele ID
634018
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.1
Genomic location
5: 78113762 (GRCh38) GRCh38 UCSC
5: 77409586 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.78113762T>C
NC_000005.9:g.77409586T>C
NM_001271769.2:c.2092A>G NP_001258698.1:p.Lys698Glu missense
... more HGVS
Protein change
K698E
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
-
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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 Aug 17, 2018 RCV000794738.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AP3B1 - - GRCh38
GRCh37
156 164

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 17, 2018)
criteria provided, single submitter
Method: clinical testing
Hermansky Pudlak syndrome 2
Allele origin: germline
Invitae
Accession: SCV000934164.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces lysine with glutamic acid at codon 747 of the AP3B1 protein (p.Lys747Glu). The lysine residue is moderately conserved and there is ... (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 Dec 17, 2019