chr15-60423660-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_024611.6(ICE2):c.2923G>A(p.Ala975Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000686 in 1,456,880 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024611.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ICE2 | NM_024611.6 | c.2923G>A | p.Ala975Thr | missense_variant | 16/16 | ENST00000261520.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ICE2 | ENST00000261520.9 | c.2923G>A | p.Ala975Thr | missense_variant | 16/16 | 1 | NM_024611.6 | P1 | |
ICE2 | ENST00000558121.5 | n.1154G>A | non_coding_transcript_exon_variant | 5/5 | 1 | ||||
ICE2 | ENST00000558181.5 | c.*2541G>A | 3_prime_UTR_variant, NMD_transcript_variant | 16/16 | 1 | ||||
ICE2 | ENST00000561124.1 | n.536G>A | non_coding_transcript_exon_variant | 5/5 | 4 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1456880Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 724780
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 26, 2022 | The c.2923G>A (p.A975T) alteration is located in exon 16 (coding exon 15) of the ICE2 gene. This alteration results from a G to A substitution at nucleotide position 2923, causing the alanine (A) at amino acid position 975 to be replaced by a threonine (T). 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.