rs538539239
- chr10-119030300-CCCGCCGCCGCCG-C
- chr10-119030300-CCCGCCGCCGCCG-CCCG
- chr10-119030300-CCCGCCGCCGCCG-CCCGCCG
- chr10-119030300-CCCGCCGCCGCCG-CCCGCCGCCG
- chr10-119030300-CCCGCCGCCGCCG-CCCGCCGCCGCCGCCG
- chr10-119030300-CCCGCCGCCGCCG-CCCGCCGCCGCCGCCGCCG
- chr10-119030300-CCCGCCGCCGCCG-CCCGCCGCCGCCGCCGCCGCCG
- chr10-119030300-CCCGCCGCCGCCG-CCCGCCGCCGCCGCCGCCGCCGCCG
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM4BS2_Supporting
The NM_199461.4(NANOS1):c.508_519delGCCGCCGCCGCC(p.Ala170_Ala173del) variant causes a conservative inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000104 in 1,154,096 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_199461.4 conservative_inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NANOS1 | NM_199461.4 | c.508_519delGCCGCCGCCGCC | p.Ala170_Ala173del | conservative_inframe_deletion | 1/1 | ENST00000425699.3 | NP_955631.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NANOS1 | ENST00000425699.3 | c.508_519delGCCGCCGCCGCC | p.Ala170_Ala173del | conservative_inframe_deletion | 1/1 | 6 | NM_199461.4 | ENSP00000393275.1 |
Frequencies
GnomAD3 genomes AF: 0.0000136 AC: 2AN: 147538Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000993 AC: 10AN: 1006558Hom.: 0 AF XY: 0.00000842 AC XY: 4AN XY: 474868
GnomAD4 genome AF: 0.0000136 AC: 2AN: 147538Hom.: 0 Cov.: 32 AF XY: 0.0000139 AC XY: 1AN XY: 71850
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at