chr9-98778412-G-A
Variant summary
Our verdict is Pathogenic. Variant got 12 ACMG points: 12P and 0B. PVS1PM2PP5_Moderate
The NM_173551.5(ANKS6):c.1381C>T(p.Arg461Ter) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000322 in 1,613,764 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (★). Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_173551.5 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANKS6 | NM_173551.5 | c.1381C>T | p.Arg461Ter | stop_gained | 7/15 | ENST00000353234.5 | NP_775822.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ANKS6 | ENST00000353234.5 | c.1381C>T | p.Arg461Ter | stop_gained | 7/15 | 1 | NM_173551.5 | ENSP00000297837 | P1 | |
ANKS6 | ENST00000375019.6 | c.478C>T | p.Arg160Ter | stop_gained | 6/15 | 5 | ENSP00000364159 | |||
ANKS6 | ENST00000634393.1 | n.481C>T | non_coding_transcript_exon_variant | 5/15 | 5 |
Frequencies
GnomAD3 genomes AF: 0.000230 AC: 35AN: 152140Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000804 AC: 2AN: 248904Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135122
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1461624Hom.: 0 Cov.: 31 AF XY: 0.0000110 AC XY: 8AN XY: 727110
GnomAD4 genome AF: 0.000230 AC: 35AN: 152140Hom.: 0 Cov.: 32 AF XY: 0.000202 AC XY: 15AN XY: 74332
ClinVar
Submissions by phenotype
Nephronophthisis 16 Pathogenic:1
Pathogenic, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Sep 07, 2017 | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ANKS6 are known to be pathogenic (PMID: 23793029, 25599650). This variant has not been reported in the literature in individuals with ANKS6-related disease. This variant is present in population databases (rs369437168, ExAC 0.002%). This sequence change creates a premature translational stop signal (p.Arg461*) in the ANKS6 gene. It is expected to result in an absent or disrupted protein product. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at