6-26444172-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000244519.7(BTN3A3):c.301C>T(p.Arg101Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000509 in 1,612,004 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 (★).
Frequency
Consequence
ENST00000244519.7 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BTN3A3 | NM_006994.5 | c.301C>T | p.Arg101Trp | missense_variant | 4/11 | ENST00000244519.7 | NP_008925.1 | |
BTN3A3 | NM_197974.3 | c.175C>T | p.Arg59Trp | missense_variant | 4/10 | NP_932078.2 | ||
BTN3A3 | NM_001242803.2 | c.175C>T | p.Arg59Trp | missense_variant | 2/6 | NP_001229732.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BTN3A3 | ENST00000244519.7 | c.301C>T | p.Arg101Trp | missense_variant | 4/11 | 1 | NM_006994.5 | ENSP00000244519 | P1 | |
ENST00000707189.1 | n.1000-109015C>T | intron_variant, non_coding_transcript_variant | ||||||||
ENST00000707191.1 | n.1001-88533C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.000191 AC: 29AN: 152162Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000486 AC: 12AN: 247168Hom.: 0 AF XY: 0.0000523 AC XY: 7AN XY: 133792
GnomAD4 exome AF: 0.0000363 AC: 53AN: 1459724Hom.: 1 Cov.: 32 AF XY: 0.0000413 AC XY: 30AN XY: 726164
GnomAD4 genome AF: 0.000190 AC: 29AN: 152280Hom.: 0 Cov.: 32 AF XY: 0.000188 AC XY: 14AN XY: 74460
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 09, 2021 | The c.301C>T (p.R101W) alteration is located in exon 4 (coding exon 2) of the BTN3A3 gene. This alteration results from a C to T substitution at nucleotide position 301, causing the arginine (R) at amino acid position 101 to be replaced by a tryptophan (W). 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