chr3-52814338-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_002218.5(ITIH4):c.2497G>A(p.Gly833Ser) variant causes a missense 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. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002218.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ITIH4 | ENST00000266041.9 | c.2497G>A | p.Gly833Ser | missense_variant | Exon 22 of 24 | 1 | NM_002218.5 | ENSP00000266041.4 | ||
ENSG00000243696 | ENST00000468472.1 | n.*4133G>A | non_coding_transcript_exon_variant | Exon 22 of 24 | 2 | ENSP00000422253.1 | ||||
ENSG00000243696 | ENST00000468472.1 | n.*4133G>A | 3_prime_UTR_variant | Exon 22 of 24 | 2 | ENSP00000422253.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2497G>A (p.G833S) alteration is located in exon 22 (coding exon 22) of the ITIH4 gene. This alteration results from a G to A substitution at nucleotide position 2497, causing the glycine (G) at amino acid position 833 to be replaced by a serine (S). 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.