1-200553391-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_ModerateBP6_ModerateBP7
The NM_014875.3(KIF14):c.4944G>A(p.Val1648=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000663 in 1,448,100 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 (★). Synonymous variant affecting the same amino acid position (i.e. V1648V) has been classified as Likely benign.
Frequency
Consequence
NM_014875.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KIF14 | NM_014875.3 | c.4944G>A | p.Val1648= | synonymous_variant | 30/30 | ENST00000367350.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KIF14 | ENST00000367350.5 | c.4944G>A | p.Val1648= | synonymous_variant | 30/30 | 2 | NM_014875.3 | P1 | |
KIF14 | ENST00000614960.4 | c.4944G>A | p.Val1648= | synonymous_variant | 29/29 | 1 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000167 AC: 4AN: 240164Hom.: 0 AF XY: 0.0000154 AC XY: 2AN XY: 129586
GnomAD4 exome AF: 0.0000663 AC: 96AN: 1448100Hom.: 0 Cov.: 29 AF XY: 0.0000709 AC XY: 51AN XY: 719388
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 10, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at