5-68216763-A-AAACCACAGCTCTAACATTAGTGAGCTCT

Variant summary

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

The NM_181523.3(PIK3R1):c.-387+829_-387+830insATTAGTGAGCTCTAACCACAGCTCTAAC 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: PIK3R1 NM_181523.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.20

Genes affected

PIK3R1 (HGNC:8979): (phosphoinositide-3-kinase regulatory subunit 1) Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in four transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
PIK3R1	NM_181523.3	c.-387+829_-387+830insATTAGTGAGCTCTAACCACAGCTCTAAC		intron_variant		ENST00000521381.6
PIK3R1	XM_017009585.3	c.-654_-653insATTAGTGAGCTCTAACCACAGCTCTAAC		5_prime_UTR_variant	1/16
PIK3R1	XM_047417315.1	c.-1407_-1406insATTAGTGAGCTCTAACCACAGCTCTAAC		5_prime_UTR_variant	1/16
PIK3R1	XM_005248542.4	c.-387+825_-387+826insATTAGTGAGCTCTAACCACAGCTCTAAC		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
PIK3R1	ENST00000521381.6	c.-387+829_-387+830insATTAGTGAGCTCTAACCACAGCTCTAAC		intron_variant		1	NM_181523.3	P1

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

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

Publications

LitVar

Other links and lift over

dbSNP: rs2067135; hg19: chr5-67512591;