rs3806273
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP7BS2
The NM_018012.4(KIF26B):c.4221G>A(p.Pro1407=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000174 in 1,612,512 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P1407P) has been classified as Benign.
Frequency
Consequence
NM_018012.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KIF26B | NM_018012.4 | c.4221G>A | p.Pro1407= | synonymous_variant | 12/15 | ENST00000407071.7 | |
LOC105373265 | XR_007066988.1 | n.657-2753C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KIF26B | ENST00000407071.7 | c.4221G>A | p.Pro1407= | synonymous_variant | 12/15 | 1 | NM_018012.4 | A2 | |
KIF26B | ENST00000366518.4 | c.3078G>A | p.Pro1026= | synonymous_variant | 9/12 | 5 | P4 | ||
KIF26B | ENST00000483253.1 | n.2152G>A | non_coding_transcript_exon_variant | 3/3 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 151946Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000244 AC: 6AN: 245464Hom.: 0 AF XY: 0.0000224 AC XY: 3AN XY: 133782
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1460448Hom.: 0 Cov.: 57 AF XY: 0.0000179 AC XY: 13AN XY: 726390
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 152064Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74308
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at