14-26790837-T-G

Variant names:

• chr14-26790837-T-G
• rs1951082
• ENST00000548328.5:n.105-7077T>G

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The ENST00000548328.5(NOVA1-DT):​n.105-7077T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 29)
• Consequence: NOVA1-DT ENST00000548328.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.376
• Publications: 13 publications found

Genes affected

NOVA1-DT (HGNC:19827): (NOVA1 divergent transcript)

LINC02294 (HGNC:53210): (long intergenic non-protein coding RNA 2294)

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
LINC02294	NR_110033.1	n.306-15138A>C		intron_variant	Intron 3 of 3
NOVA1-DT	NR_147061.1	n.2020+8629T>G		intron_variant	Intron 6 of 6

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
NOVA1-DT	ENST00000548328.5	n.105-7077T>G		intron_variant	Intron 2 of 3	5
LINC02294	ENST00000549330.1	n.293-15138A>C		intron_variant	Intron 3 of 3	2
NOVA1-DT	ENST00000552101.1	n.42-6654T>G		intron_variant	Intron 1 of 3	3

Frequencies

GnomAD3 genomes Cov.: 29

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

GnomAD4 genome Cov.: 29

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	1.2
DANN	Benign	0.67
PhyloP100		-0.38

Splicing

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

Other links and lift over

dbSNP: rs1951082; hg19: chr14-27260043;