rs113300929

Variant names:

• chr15-68141874-T-TA
• rs113300929
• NM_016166.3:c.470-72_470-71insA

Your query was ambiguous. Multiple possible variants found:

• chr15-68141874-T-TA
• chr15-68141874-T-TG
• chr15-68141874-T-TGTG

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The NM_016166.3(PIAS1):​c.470-72_470-71insA variant causes a intron 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: not found (cov: 0)
• Consequence: PIAS1 NM_016166.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.48

Genes affected

PIAS1 (HGNC:2752): (protein inhibitor of activated STAT 1) This gene encodes a member of the protein inhibitor of activated STAT (PIAS) family. PIAS proteins function as SUMO E3 ligases and play important roles in many cellular processes by mediating the sumoylation of target proteins. This protein plays a central role as a transcriptional coregulator of numerous cellular pathways includign the STAT1 and nuclear factor kappaB pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
PIAS1	NM_016166.3	c.470-72_470-71insA		intron_variant	Intron 2 of 13	ENST00000249636.11	NP_057250.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
PIAS1	ENST00000249636.11	c.470-72_470-71insA		intron_variant	Intron 2 of 13	1	NM_016166.3	ENSP00000249636.6
PIAS1	ENST00000545237.1	c.476-72_476-71insA		intron_variant	Intron 3 of 14	2		ENSP00000438574.1
PIAS1	ENST00000562190.1	n.*560-72_*560-71insA		intron_variant	Intron 4 of 5	3		ENSP00000457698.1
PIAS1	ENST00000564915.5	n.*36-72_*36-71insA		intron_variant	Intron 3 of 4	5		ENSP00000456721.1

Frequencies

GnomAD3 genomes Cov.: 0

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome Cov.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs113300929; hg19: chr15-68434212;