chr1-117147650-G-C

Variant summary

Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong

The NM_024626.4(VTCN1):​c.*8C>G variant causes a 3 prime UTR 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: 32)

Consequence

VTCN1
NM_024626.4 3_prime_UTR

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.208
Variant links:
Genes affected
VTCN1 (HGNC:28873): (V-set domain containing T cell activation inhibitor 1) This gene encodes a protein belonging to the B7 costimulatory protein family. Proteins in this family are present on the surface of antigen-presenting cells and interact with ligand bound to receptors on the surface of T cells. Studies have shown that high levels of the encoded protein has been correlated with tumor progression. A pseudogene of this gene is located on chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

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ACMG classification

Classification made for transcript

Verdict is Likely_benign. Variant got -2 ACMG points.

PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.85).

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
VTCN1NM_024626.4 linkuse as main transcriptc.*8C>G 3_prime_UTR_variant 5/6 ENST00000369458.8 NP_078902.2

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
VTCN1ENST00000369458.8 linkuse as main transcriptc.*8C>G 3_prime_UTR_variant 5/61 NM_024626.4 ENSP00000358470 P1Q7Z7D3-1
VTCN1ENST00000328189.7 linkuse as main transcriptc.*8C>G 3_prime_UTR_variant 4/55 ENSP00000328168 Q7Z7D3-2
VTCN1ENST00000359008.8 linkuse as main transcriptc.*8C>G 3_prime_UTR_variant 5/65 ENSP00000351899
VTCN1ENST00000539893.5 linkuse as main transcriptc.*8C>G 3_prime_UTR_variant 5/62 ENSP00000444724 Q7Z7D3-4

Frequencies

GnomAD3 genomes
Cov.:
32
GnomAD4 exome
Cov.:
53
GnomAD4 genome
Cov.:
32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.85
CADD
Benign
0.64
DANN
Benign
0.46

Splicing

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

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs10754339; hg19: chr1-117690272; API