1-54216183-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_016491.4(MRPL37):c.1033G>A(p.Val345Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000273 in 1,614,118 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V345A) has been classified as Uncertain significance.
Frequency
Consequence
NM_016491.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MRPL37 | NM_016491.4 | c.1033G>A | p.Val345Met | missense_variant | 6/7 | ENST00000360840.9 | |
MRPL37 | NM_001330602.1 | c.1033G>A | p.Val345Met | missense_variant | 6/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MRPL37 | ENST00000360840.9 | c.1033G>A | p.Val345Met | missense_variant | 6/7 | 1 | NM_016491.4 | P1 | |
MRPL37 | ENST00000336230.10 | c.640G>A | p.Val214Met | missense_variant | 4/5 | 1 | |||
MRPL37 | ENST00000605337.5 | c.1033G>A | p.Val345Met | missense_variant | 6/7 | 5 | |||
MRPL37 | ENST00000398219.2 | c.388G>A | p.Val130Met | missense_variant | 3/4 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000394 AC: 6AN: 152224Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000278 AC: 7AN: 251490Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135918
GnomAD4 exome AF: 0.0000260 AC: 38AN: 1461894Hom.: 0 Cov.: 30 AF XY: 0.0000248 AC XY: 18AN XY: 727248
GnomAD4 genome ? AF: 0.0000394 AC: 6AN: 152224Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74364
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 02, 2022 | The c.1033G>A (p.V345M) alteration is located in exon 6 (coding exon 6) of the MRPL37 gene. This alteration results from a G to A substitution at nucleotide position 1033, causing the valine (V) at amino acid position 345 to be replaced by a methionine (M). 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