1-54212511-A-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_016491.4(MRPL37):c.843A>C(p.Glu281Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000514 in 1,614,018 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 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 Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MRPL37 | NM_016491.4 | c.843A>C | p.Glu281Asp | missense_variant | 5/7 | ENST00000360840.9 | |
MRPL37 | NM_001330602.1 | c.843A>C | p.Glu281Asp | missense_variant | 5/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MRPL37 | ENST00000360840.9 | c.843A>C | p.Glu281Asp | missense_variant | 5/7 | 1 | NM_016491.4 | P1 | |
MRPL37 | ENST00000336230.10 | c.450A>C | p.Glu150Asp | missense_variant | 3/5 | 1 | |||
MRPL37 | ENST00000605337.5 | c.843A>C | p.Glu281Asp | missense_variant | 5/7 | 5 | |||
MRPL37 | ENST00000398219.2 | c.198A>C | p.Glu66Asp | missense_variant | 2/4 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.000283 AC: 43AN: 152156Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000758 AC: 19AN: 250780Hom.: 0 AF XY: 0.0000517 AC XY: 7AN XY: 135474
GnomAD4 exome AF: 0.0000274 AC: 40AN: 1461744Hom.: 0 Cov.: 31 AF XY: 0.0000220 AC XY: 16AN XY: 727172
GnomAD4 genome ? AF: 0.000282 AC: 43AN: 152274Hom.: 0 Cov.: 33 AF XY: 0.000269 AC XY: 20AN XY: 74458
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 21, 2023 | The c.843A>C (p.E281D) alteration is located in exon 5 (coding exon 5) of the MRPL37 gene. This alteration results from a A to C substitution at nucleotide position 843, causing the glutamic acid (E) at amino acid position 281 to be replaced by an aspartic acid (D). 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