chr3-52816939-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_002218.5(ITIH4):āc.2416A>Cā(p.Asn806His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,746 control chromosomes in the GnomAD database, with no homozygous occurrence. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_002218.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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 |
---|---|---|---|---|---|---|---|---|---|---|
ITIH4 | ENST00000266041.9 | c.2416A>C | p.Asn806His | missense_variant | Exon 21 of 24 | 1 | NM_002218.5 | ENSP00000266041.4 | ||
ENSG00000243696 | ENST00000468472.1 | n.*4052A>C | non_coding_transcript_exon_variant | Exon 21 of 24 | 2 | ENSP00000422253.1 | ||||
ENSG00000243696 | ENST00000468472.1 | n.*4052A>C | 3_prime_UTR_variant | Exon 21 of 24 | 2 | ENSP00000422253.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251376Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135858
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461746Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727190
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2416A>C (p.N806H) alteration is located in exon 21 (coding exon 21) of the ITIH4 gene. This alteration results from a A to C substitution at nucleotide position 2416, causing the asparagine (N) at amino acid position 806 to be replaced by a histidine (H). 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