chr13-30241072-C-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_032116.5(KATNAL1):c.507G>T(p.Met169Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000018 in 1,612,810 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032116.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KATNAL1 | NM_032116.5 | c.507G>T | p.Met169Ile | missense_variant | 5/11 | ENST00000380615.8 | NP_115492.1 | |
LOC102723381 | XR_007063741.1 | n.280-182C>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KATNAL1 | ENST00000380615.8 | c.507G>T | p.Met169Ile | missense_variant | 5/11 | 1 | NM_032116.5 | ENSP00000369989 | P1 | |
KATNAL1 | ENST00000380617.7 | c.507G>T | p.Met169Ile | missense_variant | 5/11 | 2 | ENSP00000369991 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000920 AC: 14AN: 152144Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000320 AC: 8AN: 250358Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135386
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1460548Hom.: 0 Cov.: 31 AF XY: 0.0000110 AC XY: 8AN XY: 726570
GnomAD4 genome AF: 0.0000919 AC: 14AN: 152262Hom.: 0 Cov.: 32 AF XY: 0.0000806 AC XY: 6AN XY: 74442
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 05, 2023 | The c.507G>T (p.M169I) alteration is located in exon 5 (coding exon 4) of the KATNAL1 gene. This alteration results from a G to T substitution at nucleotide position 507, causing the methionine (M) at amino acid position 169 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at