ENST00000342677.10:n.-217G>A

Variant names:

• chr14-65411648-A-.
• ENST00000360689.9:c.-671A>.

Variant summary

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

The ENST00000342677.10(FUT8):​n.-671A>. variant causes a upstream gene 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: FUT8 ENST00000342677.10 upstream_gene
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned
• Publications: No publications found

Genes affected

FUT8 (HGNC:4019): (fucosyltransferase 8) This gene encodes an enzyme belonging to the family of fucosyltransferases. The product of this gene catalyzes the transfer of fucose from GDP-fucose to N-linked type complex glycopeptides. This enzyme is distinct from other fucosyltransferases which catalyze alpha1-2, alpha1-3, and alpha1-4 fucose addition. The expression of this gene may contribute to the malignancy of cancer cells and to their invasive and metastatic capabilities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]

FUT8-AS1 (HGNC:44294): (FUT8 antisense RNA 1)

ENSG00000300981 (HGNC:):

ACMG classification

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

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
FUT8-AS1	NR_024334.1	n.970T>.		non_coding_transcript_exon_variant	Exon 1 of 1
FUT8	NR_038167.1	n.1057A>.		non_coding_transcript_exon_variant	Exon 1 of 9
FUT8	NM_178156.2	c.-573A>.		5_prime_UTR_variant	Exon 1 of 10		NP_835369.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
FUT8	ENST00000360689.9	c.-671A>.		5_prime_UTR_variant	Exon 1 of 11	1		ENSP00000353910.5
FUT8	ENST00000394586.6	c.-573A>.		5_prime_UTR_variant	Exon 1 of 10	1		ENSP00000378087.2
FUT8-AS1	ENST00000621019.3	n.1043T>.		non_coding_transcript_exon_variant	Exon 1 of 1	6

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

Other links and lift over

hg19: chr14-65878366;