6-26444074-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_006994.5(BTN3A3):c.203T>G(p.Val68Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000297 in 1,613,750 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. V68V) has been classified as Likely benign.
Frequency
Consequence
NM_006994.5 missense
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 | UniProt |
---|---|---|---|---|---|---|---|
BTN3A3 | NM_006994.5 | c.203T>G | p.Val68Gly | missense_variant | 4/11 | ENST00000244519.7 | |
BTN3A3 | NM_197974.3 | c.77T>G | p.Val26Gly | missense_variant | 4/10 | ||
BTN3A3 | NM_001242803.2 | c.77T>G | p.Val26Gly | missense_variant | 2/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BTN3A3 | ENST00000244519.7 | c.203T>G | p.Val68Gly | missense_variant | 4/11 | 1 | NM_006994.5 | P1 | |
ENST00000707189.1 | n.1000-109113T>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000707191.1 | n.1001-88631T>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 152080Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000104 AC: 26AN: 251170Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135734
GnomAD4 exome AF: 0.0000301 AC: 44AN: 1461670Hom.: 1 Cov.: 32 AF XY: 0.0000179 AC XY: 13AN XY: 727146
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 152080Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74284
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 16, 2022 | The c.203T>G (p.V68G) alteration is located in exon 4 (coding exon 2) of the BTN3A3 gene. This alteration results from a T to G substitution at nucleotide position 203, causing the valine (V) at amino acid position 68 to be replaced by a glycine (G). 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