rs398124610
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP7BS2
The NM_001291867.2(NHS):āc.513C>Gā(p.Leu171Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000636 in 1,164,143 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 31 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001291867.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NHS | NM_001291867.2 | c.513C>G | p.Leu171Leu | synonymous_variant | 1/9 | ENST00000676302.1 | NP_001278796.1 | |
NHS | NM_198270.4 | c.513C>G | p.Leu171Leu | synonymous_variant | 1/8 | NP_938011.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NHS | ENST00000676302.1 | c.513C>G | p.Leu171Leu | synonymous_variant | 1/9 | NM_001291867.2 | ENSP00000502262.1 | |||
NHS | ENST00000380060.7 | c.513C>G | p.Leu171Leu | synonymous_variant | 1/8 | 1 | ENSP00000369400.3 |
Frequencies
GnomAD3 genomes AF: 0.0000179 AC: 2AN: 112043Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34251
GnomAD3 exomes AF: 0.0000378 AC: 4AN: 105748Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 34738
GnomAD4 exome AF: 0.0000684 AC: 72AN: 1052100Hom.: 0 Cov.: 32 AF XY: 0.0000907 AC XY: 31AN XY: 341730
GnomAD4 genome AF: 0.0000179 AC: 2AN: 112043Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34251
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at