2-119437141-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_183240.3(TMEM37):c.274C>T(p.Arg92Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000446 in 1,614,078 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_183240.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TMEM37 | ENST00000306406.5 | c.274C>T | p.Arg92Cys | missense_variant | Exon 2 of 2 | 1 | NM_183240.3 | ENSP00000303148.4 | ||
TMEM37 | ENST00000409826.1 | c.310C>T | p.Arg104Cys | missense_variant | Exon 2 of 2 | 3 | ENSP00000387015.1 | |||
TMEM37 | ENST00000465296.1 | n.414C>T | non_coding_transcript_exon_variant | Exon 2 of 2 | 3 | |||||
TMEM37 | ENST00000417645.1 | c.*91C>T | downstream_gene_variant | 3 | ENSP00000400770.1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152222Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000438 AC: 11AN: 251282Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135858
GnomAD4 exome AF: 0.0000465 AC: 68AN: 1461856Hom.: 0 Cov.: 35 AF XY: 0.0000550 AC XY: 40AN XY: 727240
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152222Hom.: 0 Cov.: 34 AF XY: 0.0000269 AC XY: 2AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.274C>T (p.R92C) alteration is located in exon 2 (coding exon 2) of the TMEM37 gene. This alteration results from a C to T substitution at nucleotide position 274, causing the arginine (R) at amino acid position 92 to be replaced by a cysteine (C). 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