ENST00000503687.2:n.397+49185A>G

Variant names:

• chr7-66687583-G-.
• ENST00000503687.2:n.397+48654G>.

Variant summary

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

The ENST00000503687.2(ENSG00000284461):​n.397+48654G>. variant causes a intron change. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 N/A (N/A hom., cov:)
  • Exomes 𝑓: N/A (N/A hom.)
• Consequence: ENSG00000284461 ENST00000503687.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned
• Publications: No publications found

Genes affected

ENSG00000284461 (HGNC:):

RABGEF1 (HGNC:17676): (RAB guanine nucleotide exchange factor 1) RABGEF1 forms a complex with rabaptin-5 (RABPT5; MIM 603616) that is required for endocytic membrane fusion, and it serves as a specific guanine nucleotide exchange factor (GEF) for RAB5 (RAB5A; MIM 179512) (Horiuchi et al., 1997 [PubMed 9323142]).[supplied by OMIM, Mar 2010]

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000503687.2. 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
	RABGEF1	NM_001367741.1		c.-18+32957G>.		intron	N/A	NP_001354670.1
	RABGEF1	NM_001367737.1		c.-98-13186G>.		intron	N/A	NP_001354666.1
	RABGEF1	NM_001367738.1		c.-99+5325G>.		intron	N/A	NP_001354667.1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000284461	ENST00000503687.2	TSL:2	n.397+48654G>.		intron	N/A	ENSP00000421074.1	E9PHB8
	RABGEF1	ENST00000901856.1		c.-654+5325G>.		intron	N/A	ENSP00000571915.1
	RABGEF1	ENST00000901857.1		c.-213+5325G>.		intron	N/A	ENSP00000571916.1

Frequencies

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

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

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Splicing

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

Other links and lift over

hg19: chr7-66152570;