chrX-8533079-C-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000216.4(ANOS1):c.1985-26G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.291 in 953,021 control chromosomes in the GnomAD database, including 29,369 homozygotes. There are 83,369 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). There are indicators that this mutation may affect the branch point..
Frequency
Consequence
NM_000216.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ANOS1 | NM_000216.4 | c.1985-26G>T | intron_variant | ENST00000262648.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANOS1 | ENST00000262648.8 | c.1985-26G>T | intron_variant | 1 | NM_000216.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.304 AC: 33808AN: 111112Hom.: 3873 Cov.: 23 AF XY: 0.296 AC XY: 9854AN XY: 33344
GnomAD3 exomes AF: 0.298 AC: 51473AN: 172643Hom.: 5638 AF XY: 0.303 AC XY: 17655AN XY: 58267
GnomAD4 exome AF: 0.289 AC: 243402AN: 841857Hom.: 25496 Cov.: 15 AF XY: 0.313 AC XY: 73498AN XY: 234725
GnomAD4 genome AF: 0.304 AC: 33824AN: 111164Hom.: 3873 Cov.: 23 AF XY: 0.295 AC XY: 9871AN XY: 33406
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | Mar 03, 2015 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at