7-24283306-CTG-CTGTG

Variant names:

• chr7-24283306-C-CTG
• rs3037354
• ENST00000746097.1:n.626_627dupCA

Variant summary

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

The ENST00000746097.1(ENSG00000297196):​n.626_627dupCA variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 19)
• Consequence: ENSG00000297196 ENST00000746097.1 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.294
• Publications: 14 publications found

Genes affected

ENSG00000297196 (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
LOC107986777	XR_001745121.2	n.209+36049_209+36050dupCA		intron_variant	Intron 2 of 2
LOC107986777	XR_001745122.2	n.81-86279_81-86278dupCA		intron_variant	Intron 1 of 1
LOC107986777	XR_001745123.2	n.209+36049_209+36050dupCA		intron_variant	Intron 2 of 3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ENSG00000297196	ENST00000746097.1	n.626_627dupCA		non_coding_transcript_exon_variant	Exon 2 of 2
ENSG00000297196	ENST00000746098.1	n.681_682dupCA		non_coding_transcript_exon_variant	Exon 2 of 2
ENSG00000228944	ENST00000718234.1	n.319+36049_319+36050dupCA		intron_variant	Intron 2 of 3

Frequencies

GnomAD3 genomes Cov.: 19

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

GnomAD4 genome Cov.: 19

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
PhyloP100		-0.29

Splicing

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

Other links and lift over

dbSNP: rs3037354; hg19: chr7-24322925;