3-10918336-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014229.3(SLC6A11):āc.1003A>Gā(p.Ile335Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000937 in 1,601,174 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_014229.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLC6A11 | NM_014229.3 | c.1003A>G | p.Ile335Val | missense_variant | 8/14 | ENST00000254488.7 | NP_055044.1 | |
SLC6A11 | XM_047448764.1 | c.481A>G | p.Ile161Val | missense_variant | 6/12 | XP_047304720.1 | ||
SLC6A11 | XM_011534033.3 | c.1003A>G | p.Ile335Val | missense_variant | 8/9 | XP_011532335.1 | ||
LOC105376950 | XR_940587.3 | n.1939+416T>C | intron_variant |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152204Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000419 AC: 1AN: 238486Hom.: 0 AF XY: 0.00000774 AC XY: 1AN XY: 129244
GnomAD4 exome AF: 0.00000690 AC: 10AN: 1448970Hom.: 0 Cov.: 31 AF XY: 0.00000833 AC XY: 6AN XY: 720572
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152204Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74354
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 14, 2021 | The c.1003A>G (p.I335V) alteration is located in exon 8 (coding exon 8) of the SLC6A11 gene. This alteration results from a A to G substitution at nucleotide position 1003, causing the isoleucine (I) at amino acid position 335 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at