chr6-82365580-C-G
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_001376922.1(TPBG):āc.619C>Gā(p.Arg207Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000139 in 1,438,254 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Consequence
NM_001376922.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TPBG | NM_001376922.1 | c.619C>G | p.Arg207Gly | missense_variant | 2/2 | ENST00000369750.4 | |
TPBG | NM_001166392.2 | c.619C>G | p.Arg207Gly | missense_variant | 2/2 | ||
TPBG | NM_006670.5 | c.619C>G | p.Arg207Gly | missense_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TPBG | ENST00000369750.4 | c.619C>G | p.Arg207Gly | missense_variant | 2/2 | 1 | NM_001376922.1 | P1 | |
TPBG | ENST00000535040.4 | c.619C>G | p.Arg207Gly | missense_variant | 3/3 | 2 | P1 | ||
TPBG | ENST00000543496.3 | c.619C>G | p.Arg207Gly | missense_variant | 2/2 | 2 | P1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000437 AC: 1AN: 228728Hom.: 0 AF XY: 0.00000812 AC XY: 1AN XY: 123082
GnomAD4 exome AF: 0.00000139 AC: 2AN: 1438254Hom.: 0 Cov.: 30 AF XY: 0.00000280 AC XY: 2AN XY: 713416
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at