NM_030569.7:c.2750G>C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_030569.7(ITIH5):c.2750G>C(p.Gly917Ala) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000136 in 1,614,156 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_030569.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ITIH5 | NM_030569.7 | c.2750G>C | p.Gly917Ala | missense_variant | Exon 14 of 14 | ENST00000397146.7 | NP_085046.5 | |
ITIH5 | NM_032817.6 | c.2108G>C | p.Gly703Ala | missense_variant | Exon 10 of 10 | NP_116206.4 | ||
ITIH5 | XM_011519713.4 | c.2825G>C | p.Gly942Ala | missense_variant | Exon 15 of 15 | XP_011518015.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ITIH5 | ENST00000397146.7 | c.2750G>C | p.Gly917Ala | missense_variant | Exon 14 of 14 | 1 | NM_030569.7 | ENSP00000380333.3 | ||
ITIH5 | ENST00000613909.4 | c.2108G>C | p.Gly703Ala | missense_variant | Exon 10 of 10 | 1 | ENSP00000485414.1 |
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152206Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000954 AC: 24AN: 251496Hom.: 0 AF XY: 0.0000662 AC XY: 9AN XY: 135922
GnomAD4 exome AF: 0.000144 AC: 210AN: 1461832Hom.: 1 Cov.: 35 AF XY: 0.000136 AC XY: 99AN XY: 727226
GnomAD4 genome AF: 0.0000656 AC: 10AN: 152324Hom.: 0 Cov.: 33 AF XY: 0.0000940 AC XY: 7AN XY: 74490
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2750G>C (p.G917A) alteration is located in exon 14 (coding exon 14) of the ITIH5 gene. This alteration results from a G to C substitution at nucleotide position 2750, causing the glycine (G) at amino acid position 917 to be replaced by an alanine (A). 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