Pubvar

12:103232303:T/C

GRCh37/hg19 position	12:103232303
GRCh38/hg38 position	12:102838525
Alleles (ref/alt)	T/C
dbSNP rsid	rs180991851
Gene symbol	PAH
Most severe consequence	3_prime_UTR_variant
Flanking sequence	AAAACAGACTTGATAATTAATTGGAAAATGA[T/C]ACTGGAAGTTATGGGGATTAGGTGCAGAGTT
HGVS	NM_000277.3:c.650A>G NM_001354304.2:c.650A>G

Hide

Gene annotations

Transcript	Gene	Exon number	Consequence	HGVS cDNA	HGVS protein	Location	Protein location
NM_000277.3	PAH	13	3_prime_UTR_variant	c.*650A>G	-	3' UTR
NM_001354304.2	PAH	14	3_prime_UTR_variant	c.*650A>G	-	3' UTR

Hide

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
1000 genomes	ALL	5	5008	-	0.000998403
	EUR	-	-	-	0.005
	EAS	-	-	-	0
	SAS	-	-	-	0
	AFR	-	-	-	0
	AMR	-	-	-	0
gnomAD genomes	ALL	169	30964	1	0.00545795
	FIN	92	3482	1	0.0264216
	NFE	63	15008	0	0.00419776
	ASJ	0	302	0	0
	EAS	0	1618	0	0
	AFR	0	8734	0	0
	AMR	0	838	0	0
	OTH	14	982	0	0.0142566
HRC	ALL	170	64976	-	0.00261635

Hide

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
GERP++	-8.75	Not conserved
phastCons46way primates	0.008	Not conserved
phastCons46way placental	0.008	Not conserved
phastCons100way vertebrates	0	Not conserved
phyloP46way primates	-1.532	Not conserved
phyloP46way placental	-3.43	Not conserved
phyloP100way vertebrates	-1.508	Not conserved

Hide

ClinVar

Accession	Clinical significance	Date last evaluated	Review status	Method	Disease name	Disease symbol	Disease inheritance	Pubmed
RCV001109045	Uncertain significance	2018-01-13	criteria provided, single submitter	clinical testing	Phenylketonuria	PKU	-	-

Hide

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