chr11-87067726-C-G
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_022918.4(TMEM135):āc.174C>Gā(p.Asp58Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000794 in 1,613,862 control chromosomes in the GnomAD database, including 14 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ).
Frequency
Consequence
NM_022918.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TMEM135 | NM_022918.4 | c.174C>G | p.Asp58Glu | missense_variant | 2/15 | ENST00000305494.6 | |
TMEM135 | NM_001168724.2 | c.174C>G | p.Asp58Glu | missense_variant | 2/14 | ||
TMEM135 | NR_033149.2 | n.286C>G | non_coding_transcript_exon_variant | 2/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TMEM135 | ENST00000305494.6 | c.174C>G | p.Asp58Glu | missense_variant | 2/15 | 1 | NM_022918.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00395 AC: 601AN: 152156Hom.: 9 Cov.: 32
GnomAD3 exomes AF: 0.00108 AC: 271AN: 251346Hom.: 3 AF XY: 0.000839 AC XY: 114AN XY: 135858
GnomAD4 exome AF: 0.000466 AC: 681AN: 1461588Hom.: 5 Cov.: 31 AF XY: 0.000388 AC XY: 282AN XY: 727094
GnomAD4 genome AF: 0.00395 AC: 601AN: 152274Hom.: 9 Cov.: 32 AF XY: 0.00361 AC XY: 269AN XY: 74446
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | May 14, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at