rs28362680
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001304561.2(BTNL2):c.605C>T(p.Ala202Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0981 in 1,612,502 control chromosomes in the GnomAD database, including 11,121 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001304561.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BTNL2 | NM_001304561.2 | c.605C>T | p.Ala202Val | missense_variant | 3/8 | ENST00000454136.8 | |
TSBP1-AS1 | NR_136245.1 | n.303-2415G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BTNL2 | ENST00000454136.8 | c.605C>T | p.Ala202Val | missense_variant | 3/8 | 5 | NM_001304561.2 | P1 | |
TSBP1-AS1 | ENST00000645134.1 | n.628-630G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.122 AC: 18497AN: 151930Hom.: 1342 Cov.: 32
GnomAD3 exomes AF: 0.139 AC: 34330AN: 246410Hom.: 3056 AF XY: 0.136 AC XY: 18281AN XY: 134324
GnomAD4 exome AF: 0.0957 AC: 139714AN: 1460454Hom.: 9776 Cov.: 46 AF XY: 0.0979 AC XY: 71145AN XY: 726540
GnomAD4 genome ? AF: 0.122 AC: 18510AN: 152048Hom.: 1345 Cov.: 32 AF XY: 0.128 AC XY: 9500AN XY: 74332
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at