rs7084817
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_002216.3(ITIH2):āc.1705C>Gā(p.Leu569Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0469 in 1,613,892 control chromosomes in the GnomAD database, including 2,016 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_002216.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ITIH2 | NM_002216.3 | c.1705C>G | p.Leu569Val | missense_variant | 14/21 | ENST00000358415.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ITIH2 | ENST00000358415.9 | c.1705C>G | p.Leu569Val | missense_variant | 14/21 | 1 | NM_002216.3 | P1 | |
ITIH2 | ENST00000379587.4 | c.1672C>G | p.Leu558Val | missense_variant | 13/20 | 5 | |||
ITIH2 | ENST00000477751.1 | n.513C>G | non_coding_transcript_exon_variant | 3/3 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0355 AC: 5398AN: 152148Hom.: 121 Cov.: 32
GnomAD3 exomes AF: 0.0404 AC: 10167AN: 251434Hom.: 275 AF XY: 0.0424 AC XY: 5761AN XY: 135888
GnomAD4 exome AF: 0.0480 AC: 70230AN: 1461626Hom.: 1895 Cov.: 31 AF XY: 0.0484 AC XY: 35212AN XY: 727116
GnomAD4 genome ? AF: 0.0355 AC: 5399AN: 152266Hom.: 121 Cov.: 32 AF XY: 0.0350 AC XY: 2607AN XY: 74460
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at