rs76844316
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_181780.4(BTLA):āc.590A>Cā(p.Asn197Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00851 in 1,600,692 control chromosomes in the GnomAD database, including 520 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_181780.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BTLA | NM_181780.4 | c.590A>C | p.Asn197Thr | missense_variant | 4/5 | ENST00000334529.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BTLA | ENST00000334529.10 | c.590A>C | p.Asn197Thr | missense_variant | 4/5 | 1 | NM_181780.4 | P2 | |
BTLA | ENST00000383680.4 | c.446A>C | p.Asn149Thr | missense_variant | 3/4 | 1 | A2 | ||
BTLA | ENST00000474965.1 | n.94A>C | non_coding_transcript_exon_variant | 2/3 | 2 | ||||
BTLA | ENST00000496584.1 | n.525A>C | non_coding_transcript_exon_variant | 2/2 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0228 AC: 3239AN: 142018Hom.: 90 Cov.: 31
GnomAD3 exomes AF: 0.0236 AC: 5906AN: 249746Hom.: 287 AF XY: 0.0190 AC XY: 2573AN XY: 135136
GnomAD4 exome AF: 0.00711 AC: 10374AN: 1458552Hom.: 430 Cov.: 30 AF XY: 0.00655 AC XY: 4754AN XY: 725742
GnomAD4 genome ? AF: 0.0229 AC: 3255AN: 142140Hom.: 90 Cov.: 31 AF XY: 0.0235 AC XY: 1630AN XY: 69274
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at