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NM_004160.5(PYY):c.185A>C (p.Gln62Pro)

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Interpretation:
Uncertain significance​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Sep 27, 2010)
Last evaluated:
Feb 1, 2006
Accession:
VCV000008822.1
Variation ID:
8822
Description:
single nucleotide variant
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NM_004160.5(PYY):c.185A>C (p.Gln62Pro)

Allele ID
23861
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 43953299 (GRCh38) GRCh38 UCSC
17: 42030667 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.42030667T>G
NC_000017.11:g.43953299T>G
NM_004160.5:c.185A>C NP_004151.3:p.Gln62Pro missense
NG_023338.1:g.56171A>C
Protein change
Q62P
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 600781.0001
dbSNP: rs267606994
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 no assertion criteria provided Feb 1, 2006 RCV000033193.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PYY - - GRCh38
GRCh37
1 12

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 01, 2006)
no assertion criteria provided
Method: literature only
RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
Allele origin: germline
OMIM
Accession: SCV000057038.2
Submitted: (Sep 27, 2010)
Evidence details
Publications
PubMed (3)

Citations for this variant

Title Author Journal Year Link
A PYY Q62P variant linked to human obesity. Ahituv N Human molecular genetics 2006 PMID: 16368708
Structure and receptor binding of PYY analogs. Keire DA Peptides 2002 PMID: 11825645
Primary structures of PYY, [Pro(34)]PYY, and PYY-(3-36) confer different conformations and receptor selectivity. Keire DA American journal of physiology. Gastrointestinal and liver physiology 2000 PMID: 10898754

Record last updated May 06, 2019