Pubvar

12:103232956:-/T

GRCh37/hg19 position	12:103232956
GRCh38/hg38 position	12:102839178
Alleles (ref/alt)	-/T
dbSNP rsid	rs199475641
Gene symbol	PAH
Most severe consequence	frameshift_variant
Flanking sequence	CTGACAGACCACATTCTGTCCATGGCTTTAC[-/T]TTTATTTTCTGGAGGGCACTGCAAAGGATTC
HGVS	NM_000277.3:c.1355dup NM_001354304.2:c.1355dup NP_000268.1:p.Ter453ValfsTer36 NP_001341233.1:p.Ter453ValfsTer36 More...

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Gene annotations

Transcript

Gene

Exon number

Consequence

HGVS cDNA

HGVS protein

Location

Protein location

NM_000277.3

PAH

frameshift_variant

c.1355dup

p.Ter453ValfsTer36

Exon 13

NM_001354304.2

PAH

frameshift_variant

c.1355dup

p.Ter453ValfsTer36

Exon 14

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Population frequency

Select populations: ALL LWK MKK YRI EUR FIN NFE CEU ASJ TSI EAS SAS CHB HAN CHD JPT AFR AMR ASW GIH MEX OTH

Database	Population	AC	AN	Hom	AF

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View on UCSC genome browser

Conservation

Conservation scores are retrieved from UCSC genome browser. The conservation levels are defined by simple cutoff values. If the conservation levels do not agree with each other, you can manually check whether this variant is conserved with UCSC genome browser.

Method	Score	Level

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ClinVar

Accession	Clinical significance	Date last evaluated	Review status	Method	Disease name	Disease symbol	Disease inheritance	Pubmed
RCV000169511	Likely pathogenic	2023-02-13	criteria provided, multiple submitters, no conflicts	literature only	Phenylketonuria	PKU	Autosomal recessive inheritance	12655553 23357515 28492532 9634518 23430918 14722928 10394930
RCV000088835	Pathogenic	2019-10-01	criteria provided, single submitter	literature only	not provided	-	-	-

Accession

Clinical significance

Date last evaluated

Review status

Method

Disease name

Disease symbol

Disease inheritance

Pubmed

RCV000169511

Likely pathogenic

2023-02-13

criteria provided, multiple submitters, no conflicts

literature only

Phenylketonuria

PKU

Autosomal recessive inheritance

Pathogenic

2019-10-01

criteria provided, single submitter

literature only

not provided

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InterVar

InterVar is a software tool for clinical interpretation of genetic variants by the ACMG/AMP 2015 guideline. The eveidence tags that variant met are highlighted. Please note that evidence tags with need to be evaluated manually.

Class: Uncertain significance

	Benign		Pathogenic
	Strong	Supporting	Supporting	Moderate	Strong	Very Strong
Population data	BA1 BS1 BS2			PM2	PS4
Computational and predictive data		BP1 BP3 BP4 BP7	PP3	PM4 PM5	PS1	PVS1
Functional data	BS3		PP2	PM1	PS3
Segregation data	BS4		PP1	PP1	PP1
De novo data				PM6	PS2
Allelic data		BP2		PM3
Other database		BP6	PP5
Other data		BP5	PP4

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Amino acid change

The physichemical property of amino acid change.

Trait	Ter	ValfsTer
Amino acid name	-	-
Side chain class	-	-
Polarity	-	-
Charge (pH=7.4)	-	-
Hydropathy	-	-
Molecular weight	-	-