rs3805483

Variant names:

• chr5-90507770-T-A
• rs3805483
• NM_006467.3:c.585+1096T>A

Your query was ambiguous. Multiple possible variants found:

• chr5-90507770-T-A
• chr5-90507770-T-C

Variant summary

Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The NM_006467.3(POLR3G):​c.585+1096T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 32)
• Consequence: POLR3G NM_006467.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.446

Genes affected

POLR3G (HGNC:30075): (RNA polymerase III subunit G) Enables chromatin binding activity. Involved in positive regulation of innate immune response; positive regulation of interferon-beta production; and transcription by RNA polymerase III. Acts upstream of or within cell population proliferation. Located in cytosol and nuclear body. Part of RNA polymerase III complex. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Likely_benign. Variant got -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
POLR3G	NM_006467.3	c.585+1096T>A		intron_variant	Intron 7 of 7	ENST00000651687.1	NP_006458.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
POLR3G	ENST00000651687.1	c.585+1096T>A		intron_variant	Intron 7 of 7		NM_006467.3	ENSP00000498469.1
POLR3G	ENST00000504930.5	c.585+1096T>A		intron_variant	Intron 7 of 7	2		ENSP00000421637.1
POLR3G	ENST00000503373.5	c.585+1096T>A		intron_variant	Intron 7 of 7	4		ENSP00000422892.1
POLR3G	ENST00000399107.6	n.*158+1096T>A		intron_variant	Intron 7 of 7	2		ENSP00000382058.2

Frequencies

GnomAD3 genomes Cov.: 32

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

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	8.3
DANN	Benign	0.50

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: rs3805483; hg19: chr5-89803587;