chr7-12214926-A-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_001134232.2(TMEM106B):c.116A>T(p.Asp39Val) variant causes a missense change. The variant allele was found at a frequency of 0.000173 in 1,614,122 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D39H) has been classified as Uncertain significance.
Frequency
Consequence
NM_001134232.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TMEM106B | NM_001134232.2 | c.116A>T | p.Asp39Val | missense_variant | 2/8 | ENST00000396668.8 | |
TMEM106B | NM_018374.4 | c.116A>T | p.Asp39Val | missense_variant | 3/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TMEM106B | ENST00000396668.8 | c.116A>T | p.Asp39Val | missense_variant | 2/8 | 1 | NM_001134232.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000893 AC: 136AN: 152244Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000298 AC: 75AN: 251362Hom.: 1 AF XY: 0.000272 AC XY: 37AN XY: 135854
GnomAD4 exome AF: 0.0000985 AC: 144AN: 1461760Hom.: 2 Cov.: 31 AF XY: 0.0000839 AC XY: 61AN XY: 727172
GnomAD4 genome AF: 0.000893 AC: 136AN: 152362Hom.: 1 Cov.: 32 AF XY: 0.000738 AC XY: 55AN XY: 74516
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 24, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at