rs141497185
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_198525.3(KIF7):c.2421G>T(p.Thr807=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,454 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. T807T) has been classified as Likely benign.
Frequency
Consequence
NM_198525.3 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KIF7 | NM_198525.3 | c.2421G>T | p.Thr807= | synonymous_variant | 12/19 | ENST00000394412.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KIF7 | ENST00000394412.8 | c.2421G>T | p.Thr807= | synonymous_variant | 12/19 | 5 | NM_198525.3 | P2 | |
KIF7 | ENST00000696512.1 | c.2544G>T | p.Thr848= | synonymous_variant | 12/19 | A2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250996Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135710
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461454Hom.: 0 Cov.: 33 AF XY: 0.00000413 AC XY: 3AN XY: 727040
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at