5-62306491-G-C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_ModerateBP6_Moderate
The NM_001098511.3(KIF2A):c.19G>C(p.Gly7Arg) variant causes a missense change. The variant allele was found at a frequency of 0.000011 in 1,545,498 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G7S) has been classified as Uncertain significance.
Frequency
Consequence
NM_001098511.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KIF2A | NM_001098511.3 | c.19G>C | p.Gly7Arg | missense_variant | 1/21 | ENST00000407818.8 | |
KIF2A | NM_004520.5 | c.19G>C | p.Gly7Arg | missense_variant | 1/20 | ||
KIF2A | NM_001243953.2 | c.19G>C | p.Gly7Arg | missense_variant | 1/20 | ||
KIF2A | NM_001243952.2 | c.-266G>C | 5_prime_UTR_variant | 1/21 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KIF2A | ENST00000407818.8 | c.19G>C | p.Gly7Arg | missense_variant | 1/21 | 1 | NM_001098511.3 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 152062Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000138 AC: 2AN: 145282Hom.: 0 AF XY: 0.0000129 AC XY: 1AN XY: 77798
GnomAD4 exome AF: 0.0000100 AC: 14AN: 1393330Hom.: 0 Cov.: 32 AF XY: 0.00000873 AC XY: 6AN XY: 687178
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 152168Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74384
ClinVar
Submissions by phenotype
Microcephaly Uncertain:1
Uncertain significance, no assertion criteria provided | research | Department of Pediatrics, Samsung Medical Center, Samsung Medical Center | - | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Sep 01, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at