12-57549977-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_ModerateBP6_ModerateBS1BS2
The ENST00000676250.1(KIF5A):c.-25+3665C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00149 in 388,544 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Genomes: 𝑓 0.0032 ( 3 hom., cov: 32)
Exomes 𝑓: 0.00037 ( 0 hom. )
Consequence
KIF5A
ENST00000676250.1 intron
ENST00000676250.1 intron
Scores
1
1
Clinical Significance
Conservation
PhyloP100: 0.408
Genes affected
KIF5A (HGNC:6323): (kinesin family member 5A) This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.33).
BP6
?
Variant 12-57549977-C-T is Benign according to our data. Variant chr12-57549977-C-T is described in ClinVar as [Likely_benign]. Clinvar id is 1190587.Status of the report is criteria_provided_single_submitter, 1 stars.
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.00321 (489/152256) while in subpopulation AFR AF= 0.0108 (448/41566). AF 95% confidence interval is 0.00995. There are 3 homozygotes in gnomad4. There are 222 alleles in male gnomad4 subpopulation. Median coverage is 32. This position pass quality control queck.
BS2
?
High AC in GnomAd at 490 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KIF5A | ENST00000676250.1 | c.-25+3665C>T | intron_variant | ||||||
KIF5A | ENST00000674619.1 | upstream_gene_variant |
Frequencies
GnomAD3 genomes ? AF: 0.00322 AC: 490AN: 152144Hom.: 3 Cov.: 32
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GnomAD4 exome AF: 0.000372 AC: 88AN: 236288Hom.: 0 Cov.: 0 AF XY: 0.000284 AC XY: 36AN XY: 126648
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GnomAD4 genome ? AF: 0.00321 AC: 489AN: 152256Hom.: 3 Cov.: 32 AF XY: 0.00298 AC XY: 222AN XY: 74446
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ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Sep 20, 2019 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Uncertain
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at