rs55984056
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_017934.7(PHIP):c.*185_*196delTATATATATATA variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000015 ( 0 hom., cov: 0)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
PHIP
NM_017934.7 3_prime_UTR
NM_017934.7 3_prime_UTR
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 2.87
Genes affected
PHIP (HGNC:15673): (pleckstrin homology domain interacting protein) This gene encodes a protein that binds to the insulin receptor substrate 1 protein and regulates glucose transporter translocation in skeletal muscle cells. The encoded protein may also regulate growth and survival of pancreatic beta cells. Elevated copy number of this gene may be associated with melanoma severity and the encoded protein may promote melanoma metastasis in human patients. [provided by RefSeq, Oct 2016]
IRAK1BP1 (HGNC:17368): (interleukin 1 receptor associated kinase 1 binding protein 1) Predicted to be involved in I-kappaB kinase/NF-kappaB signaling. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Genome browser will be placed here
ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|
| PHIP | NM_017934.7 | c.*185_*196delTATATATATATA | 3_prime_UTR_variant | Exon 40 of 40 | ENST00000275034.5 | NP_060404.4 | ||
| PHIP | XM_005248729.6 | c.*185_*196delTATATATATATA | 3_prime_UTR_variant | Exon 40 of 40 | XP_005248786.1 | |||
| PHIP | XM_011535918.4 | c.*185_*196delTATATATATATA | 3_prime_UTR_variant | Exon 37 of 37 | XP_011534220.1 | |||
| IRAK1BP1 | XM_047418194.1 | c.*37+4935_*37+4946delATATATATATAT | intron_variant | Intron 3 of 3 | XP_047274150.1 |
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
|---|---|---|---|---|---|---|---|---|---|---|
| PHIP | ENST00000275034 | c.*185_*196delTATATATATATA | 3_prime_UTR_variant | Exon 40 of 40 | 1 | NM_017934.7 | ENSP00000275034.3 | |||
| IRAK1BP1 | ENST00000606868.5 | n.*68-4904_*68-4893delATATATATATAT | intron_variant | Intron 4 of 4 | 1 | ENSP00000475570.1 | ||||
| PHIP | ENST00000700114 | c.*185_*196delTATATATATATA | 3_prime_UTR_variant | Exon 39 of 39 | ENSP00000514808.1 | |||||
| PHIP | ENST00000479165.1 | n.*38_*49delTATATATATATA | downstream_gene_variant | 1 |
Frequencies
GnomAD3 genomes 0.0000154 AC: 2AN: 130102Hom.: 0 Cov.: 0
GnomAD3 genomes
AF:
AC:
2
AN:
130102
Hom.:
Cov.:
0
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 718Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 386
GnomAD4 exome
Data not reliable, filtered out with message: AC0;AS_VQSR
AF:
AC:
0
AN:
718
Hom.:
AF XY:
AC XY:
0
AN XY:
386
Gnomad4 AFR exome
AF:
Gnomad4 AMR exome
AF:
Gnomad4 ASJ exome
AF:
Gnomad4 EAS exome
AF:
Gnomad4 SAS exome
AF:
Gnomad4 FIN exome
AF:
Gnomad4 NFE exome
AF:
Gnomad4 OTH exome
AF:
GnomAD4 genome 0.0000154 AC: 2AN: 130102Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 61038
GnomAD4 genome
AF:
AC:
2
AN:
130102
Hom.:
Cov.:
0
AF XY:
AC XY:
0
AN XY:
61038
Gnomad4 AFR
AF:
Gnomad4 AMR
AF:
Gnomad4 ASJ
AF:
Gnomad4 EAS
AF:
Gnomad4 SAS
AF:
Gnomad4 FIN
AF:
Gnomad4 NFE
AF:
Gnomad4 OTH
AF:
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at