11-59831762-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_005142.3(CBLIF):āc.1108G>Cā(p.Val370Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000688 in 1,452,762 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V370I) has been classified as Uncertain significance.
Frequency
Consequence
NM_005142.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CBLIF | NM_005142.3 | c.1108G>C | p.Val370Leu | missense_variant | 8/9 | ENST00000257248.3 | |
CBLIF | XM_011544939.4 | c.1066G>C | p.Val356Leu | missense_variant | 8/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CBLIF | ENST00000257248.3 | c.1108G>C | p.Val370Leu | missense_variant | 8/9 | 1 | NM_005142.3 | P1 | |
CBLIF | ENST00000533067.1 | n.155G>C | non_coding_transcript_exon_variant | 2/2 | 3 | ||||
CBLIF | ENST00000525058.5 | c.*1075G>C | 3_prime_UTR_variant, NMD_transcript_variant | 8/9 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251396Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135870
GnomAD4 exome AF: 0.00000688 AC: 10AN: 1452762Hom.: 0 Cov.: 27 AF XY: 0.00000691 AC XY: 5AN XY: 723326
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 30, 2021 | The c.1108G>C (p.V370L) alteration is located in exon 8 (coding exon 8) of the GIF gene. This alteration results from a G to C substitution at nucleotide position 1108, causing the valine (V) at amino acid position 370 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at