rs377126261
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001379110.1(SLC9A6):āc.338A>Gā(p.Asn113Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000711 in 1,196,337 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 29 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 10/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001379110.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC9A6 | NM_001379110.1 | c.338A>G | p.Asn113Ser | missense_variant | 3/18 | ENST00000630721.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC9A6 | ENST00000630721.3 | c.338A>G | p.Asn113Ser | missense_variant | 3/18 | 4 | NM_001379110.1 |
Frequencies
GnomAD3 genomes ? AF: 0.000116 AC: 13AN: 112460Hom.: 0 Cov.: 23 AF XY: 0.000116 AC XY: 4AN XY: 34612
GnomAD3 exomes AF: 0.0000601 AC: 11AN: 182977Hom.: 0 AF XY: 0.0000148 AC XY: 1AN XY: 67511
GnomAD4 exome AF: 0.0000664 AC: 72AN: 1083877Hom.: 0 Cov.: 28 AF XY: 0.0000714 AC XY: 25AN XY: 350059
GnomAD4 genome ? AF: 0.000116 AC: 13AN: 112460Hom.: 0 Cov.: 23 AF XY: 0.000116 AC XY: 4AN XY: 34612
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Aug 04, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at