E2F8 p.Val770Val

Variant names:

• chr11-19225331-C-C
• NM_024680.4:c.

Your query was ambiguous. Multiple possible variants found:

• chr11-19225332--
• chr11-19225332-G-A
• chr11-19225332-G-T
• chr11-19225332-G-C

Variant summary

Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2

The NM_024680.4(E2F8):​c. variant causes a exon region change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 32)
• Consequence: E2F8 NM_024680.4 exon_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.620
• Publications: 0 publications found

Genes affected

E2F8 (HGNC:24727): (E2F transcription factor 8) This gene encodes a member of a family of transcription factors which regulate the expression of genes required for progression through the cell cycle. The encoded protein regulates progression from G1 to S phase by ensuring the nucleus divides at the proper time. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2012]

CSRP3-AS1 (HGNC:54183): (CSRP3 and E2F8 antisense RNA 1)

ACMG classification

Our verdict: Uncertain_significance. The variant received 2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_024680.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	E2F8	NM_024680.4	MANE Select	c.		exon_region	Exon 12 of 13	NP_078956.2
	E2F8	NM_001256371.2		c.		exon_region	Exon 12 of 13	NP_001243300.1	A0AVK6
	E2F8	NM_001256372.1		c.		exon_region	Exon 12 of 13	NP_001243301.1	A0AVK6

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	E2F8	ENST00000250024.9	TSL:1 MANE Select	c.		exon_region	Exon 12 of 13	ENSP00000250024.4	A0AVK6
	E2F8	ENST00000928104.1		c.		exon_region	Exon 12 of 13	ENSP00000598163.1
	E2F8	ENST00000527884.5	TSL:2	c.		exon_region	Exon 12 of 13	ENSP00000434199.1	A0AVK6

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Cov.: 31

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.62

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

hg19: chr11-19246878;