chr6-26451773-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006994.5(BTN3A3):āc.1117G>Cā(p.Asp373His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,776 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_006994.5 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 | UniProt |
---|---|---|---|---|---|---|---|
BTN3A3 | NM_006994.5 | c.1117G>C | p.Asp373His | missense_variant | 11/11 | ENST00000244519.7 | |
BTN3A3 | NM_197974.3 | c.970G>C | p.Asp324His | missense_variant | 10/10 | ||
BTN3A3 | NM_001242803.2 | c.487G>C | p.Asp163His | missense_variant | 6/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BTN3A3 | ENST00000244519.7 | c.1117G>C | p.Asp373His | missense_variant | 11/11 | 1 | NM_006994.5 | P1 | |
ENST00000707189.1 | n.1000-101414G>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000707191.1 | n.1001-80932G>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251482Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135916
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461776Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727184
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 22, 2022 | The c.1117G>C (p.D373H) alteration is located in exon 11 (coding exon 9) of the BTN3A3 gene. This alteration results from a G to C substitution at nucleotide position 1117, causing the aspartic acid (D) at amino acid position 373 to be replaced by a histidine (H). 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