ENST00000398622.3:n.-17+3886C>A

Variant names:

• chr2-61149000-A-.
• ENST00000398622.3:n.-17+3804A>.

Variant summary

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

The ENST00000398622.3(C2orf74):​n.-17+3804A>. 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: C2orf74 ENST00000398622.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned

Genes affected

C2orf74 (HGNC:34439): (chromosome 2 open reading frame 74) Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]

ENSG00000274769 (HGNC:):

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
C2orf74	NM_001143960.3	c.-122+3804A>.		intron_variant	Intron 1 of 3		NP_001137432.1
C2orf74	NM_001316317.2	c.-8+3804A>.		intron_variant	Intron 1 of 2		NP_001303246.1
C2orf74	NM_001367069.1	c.-273+3804A>.		intron_variant	Intron 1 of 4		NP_001353998.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
C2orf74	ENST00000398622.3	n.-17+3804A>.		intron_variant	Intron 1 of 4	1		ENSP00000381621.2
C2orf74	ENST00000426997.5	c.-122+3804A>.		intron_variant	Intron 1 of 3	3		ENSP00000398725.1
C2orf74	ENST00000464909.2	c.-8+3804A>.		intron_variant	Intron 1 of 2	2		ENSP00000482798.1

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 v4.3

Splicing

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

Publications

No publications associated with this variant yet.

Other links and lift over

hg19: chr2-61376135;