chr17-74356921-C-G
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_001080466.2(BTBD17):c.1173G>C(p.Pro391Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000158 in 1,263,212 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001080466.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BTBD17 | NM_001080466.2 | c.1173G>C | p.Pro391Pro | synonymous_variant | Exon 3 of 3 | ENST00000375366.4 | NP_001073935.1 | |
BTBD17 | XM_011524791.3 | c.1176G>C | p.Pro392Pro | synonymous_variant | Exon 5 of 5 | XP_011523093.1 | ||
BTBD17 | XM_017024622.2 | c.1176G>C | p.Pro392Pro | synonymous_variant | Exon 5 of 5 | XP_016880111.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000158 AC: 2AN: 1263212Hom.: 0 Cov.: 32 AF XY: 0.00000323 AC XY: 2AN XY: 619708
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Benign:1
BTBD17: PM2:Supporting, BP4, BP7 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at