12:103232161:GC/-
GRCh37/hg19 position 12:103232161
GRCh38/hg38 position 12:102838383
Alleles (ref/alt) GC/-
dbSNP rsid -
Gene symbol

PAH

Most severe consequence 3_prime_UTR_variant
Flanking sequence ACAAATAAAAATTTCACATTTATACAGATTT[GC/-]TTTTCAATAATGTATTTACTTATTTATTCAG
HGVS

NM_000277.1:c.*791_*792delGC

Gene annotations
Transcript Gene Exon number Consequence HGVS cDNA HGVS protein Location Protein location
NM_000277.1 PAH 13 3_prime_UTR_variant c.*791_*792delGC - 3' UTR
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
gnomAD genomes ALL 1 30974 0 3.22851e-05
FIN 0 3494 0 0
NFE 0 15006 0 0
ASJ 0 302 0 0
EAS 0 1618 0 0
AFR 0 8734 0 0
AMR 1 838 0 0.00119332
OTH 0 982 0 0
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
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
gnomAD
The Genome Aggregation Database (gnomAD), is a coalition of investigators seeking to aggregate and harmonize exome and genome sequencing data from a variety of large-scale sequencing projects, and to make summary data available for the wider scientific community. In its first release, which contained exclusively exome data, it was known as the Exome Aggregation Consortium (ExAC).