1-160950696-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_080878.3(ITLN2):c.457G>A(p.Asp153Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000753 in 1,460,908 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D153Y) has been classified as Uncertain significance.
Frequency
Consequence
NM_080878.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ITLN2 | ENST00000368029.4 | c.457G>A | p.Asp153Asn | missense_variant | Exon 5 of 8 | 1 | NM_080878.3 | ENSP00000357008.3 | ||
ITLN2 | ENST00000490489.1 | n.448G>A | non_coding_transcript_exon_variant | Exon 2 of 2 | 3 | |||||
ITLN2 | ENST00000494442.1 | n.317G>A | non_coding_transcript_exon_variant | Exon 1 of 4 | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249484Hom.: 0 AF XY: 0.00000742 AC XY: 1AN XY: 134856
GnomAD4 exome AF: 0.00000753 AC: 11AN: 1460908Hom.: 0 Cov.: 32 AF XY: 0.00000688 AC XY: 5AN XY: 726734
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at