2-8682859-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_002166.5(ID2):c.365C>T(p.Ser122Phe) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,461,046 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002166.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ID2 | ENST00000396290.2 | c.365C>T | p.Ser122Phe | missense_variant | Exon 2 of 3 | 1 | NM_002166.5 | ENSP00000379585.1 | ||
ID2 | ENST00000234091.8 | c.365C>T | p.Ser122Phe | missense_variant | Exon 4 of 5 | 1 | ENSP00000234091.4 | |||
ID2 | ENST00000331129.3 | c.365C>T | p.Ser122Phe | missense_variant | Exon 2 of 2 | 1 | ENSP00000385465.2 | |||
ID2 | ENST00000472142.1 | n.80C>T | non_coding_transcript_exon_variant | Exon 1 of 2 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461046Hom.: 0 Cov.: 31 AF XY: 0.00000550 AC XY: 4AN XY: 726860
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.365C>T (p.S122F) alteration is located in exon 2 (coding exon 2) of the ID2 gene. This alteration results from a C to T substitution at nucleotide position 365, causing the serine (S) at amino acid position 122 to be replaced by a phenylalanine (F). 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
Publications
No publications associated with this variant yet.