1-54212644-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016491.4(MRPL37):c.976C>T(p.Arg326Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000297 in 1,614,072 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016491.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MRPL37 | NM_016491.4 | c.976C>T | p.Arg326Trp | missense_variant | 5/7 | ENST00000360840.9 | |
MRPL37 | NM_001330602.1 | c.976C>T | p.Arg326Trp | missense_variant | 5/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MRPL37 | ENST00000360840.9 | c.976C>T | p.Arg326Trp | missense_variant | 5/7 | 1 | NM_016491.4 | P1 | |
MRPL37 | ENST00000336230.10 | c.583C>T | p.Arg195Trp | missense_variant | 3/5 | 1 | |||
MRPL37 | ENST00000605337.5 | c.976C>T | p.Arg326Trp | missense_variant | 5/7 | 5 | |||
MRPL37 | ENST00000398219.2 | c.331C>T | p.Arg111Trp | missense_variant | 2/4 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 152196Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000636 AC: 16AN: 251394Hom.: 0 AF XY: 0.0000736 AC XY: 10AN XY: 135862
GnomAD4 exome AF: 0.0000301 AC: 44AN: 1461876Hom.: 0 Cov.: 31 AF XY: 0.0000440 AC XY: 32AN XY: 727234
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 152196Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74346
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 06, 2021 | The c.976C>T (p.R326W) alteration is located in exon 5 (coding exon 5) of the MRPL37 gene. This alteration results from a C to T substitution at nucleotide position 976, causing the arginine (R) at amino acid position 326 to be replaced by a tryptophan (W). 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