12-2818271-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_018463.4(ITFG2):c.400G>A(p.Asp134Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000992 in 1,612,546 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018463.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ITFG2 | NM_018463.4 | c.400G>A | p.Asp134Asn | missense_variant | Exon 4 of 12 | ENST00000228799.7 | NP_060933.3 | |
ITFG2 | NR_130744.3 | n.493G>A | non_coding_transcript_exon_variant | Exon 4 of 14 | ||||
ITFG2 | NR_147202.2 | n.477+16G>A | intron_variant | Intron 4 of 15 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152154Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250128Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135242
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1460392Hom.: 0 Cov.: 31 AF XY: 0.00000688 AC XY: 5AN XY: 726536
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152154Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74334
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.400G>A (p.D134N) alteration is located in exon 4 (coding exon 4) of the ITFG2 gene. This alteration results from a G to A substitution at nucleotide position 400, causing the aspartic acid (D) at amino acid position 134 to be replaced by an asparagine (N). 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