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NM_000277.3(PAH):c.951C>T (p.Tyr317=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
Jun 8, 2021
Most recent Submission:
May 16, 2022
Last evaluated:
Mar 28, 2019
Accession:
VCV001133184.4
Variation ID:
1133184
Description:
single nucleotide variant
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NM_000277.3(PAH):c.951C>T (p.Tyr317=)

Allele ID
1122246
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q23.2
Genomic location
12: 102846913 (GRCh38) GRCh38 UCSC
12: 103240691 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000277.3:c.951C>T MANE Select NP_000268.1:p.Tyr317= synonymous
NM_001354304.2:c.951C>T NP_001341233.1:p.Tyr317= synonymous
NC_000012.12:g.102846913G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:102846912:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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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 Mar 28, 2019 RCV001467699.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PAH - - GRCh38
GRCh37
1300 1332

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Likely benign
(Mar 28, 2019)
criteria provided, single submitter
Method: clinical testing
Phenylketonuria
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001671727.2
First in ClinVar: Jun 08, 2021
Last updated: May 16, 2022

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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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 Aug 24, 2022