X-149611302-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_032508.4(TMEM185A):c.200G>A(p.Arg67Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000141 in 1,206,538 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 8 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032508.4 missense
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 |
---|---|---|---|---|---|---|---|---|
TMEM185A | NM_032508.4 | c.200G>A | p.Arg67Gln | missense_variant | Exon 2 of 7 | ENST00000600449.8 | NP_115897.1 | |
TMEM185A | NM_001282302.2 | c.200G>A | p.Arg67Gln | missense_variant | Exon 2 of 4 | NP_001269231.1 | ||
TMEM185A | NM_001174092.3 | c.39-2468G>A | intron_variant | Intron 1 of 5 | NP_001167563.1 | |||
TMEM185A | NR_104121.2 | n.251-10823G>A | intron_variant | Intron 1 of 3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000718 AC: 8AN: 111492Hom.: 0 Cov.: 23 AF XY: 0.0000891 AC XY: 3AN XY: 33682
GnomAD3 exomes AF: 0.0000113 AC: 2AN: 177266Hom.: 0 AF XY: 0.0000322 AC XY: 2AN XY: 62162
GnomAD4 exome AF: 0.00000822 AC: 9AN: 1095046Hom.: 0 Cov.: 30 AF XY: 0.0000139 AC XY: 5AN XY: 360774
GnomAD4 genome AF: 0.0000718 AC: 8AN: 111492Hom.: 0 Cov.: 23 AF XY: 0.0000891 AC XY: 3AN XY: 33682
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.200G>A (p.R67Q) alteration is located in exon 2 (coding exon 2) of the TMEM185A gene. This alteration results from a G to A substitution at nucleotide position 200, causing the arginine (R) at amino acid position 67 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at