rs13571
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_016491.4(MRPL37):āc.1097G>Cā(p.Cys366Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.733 in 1,613,990 control chromosomes in the GnomAD database, including 440,003 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_016491.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MRPL37 | NM_016491.4 | c.1097G>C | p.Cys366Ser | missense_variant | 6/7 | ENST00000360840.9 | |
MRPL37 | NM_001330602.1 | c.1097G>C | p.Cys366Ser | missense_variant | 6/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MRPL37 | ENST00000360840.9 | c.1097G>C | p.Cys366Ser | missense_variant | 6/7 | 1 | NM_016491.4 | P1 | |
MRPL37 | ENST00000336230.10 | c.704G>C | p.Cys235Ser | missense_variant | 4/5 | 1 | |||
MRPL37 | ENST00000605337.5 | c.1097G>C | p.Cys366Ser | missense_variant | 6/7 | 5 | |||
MRPL37 | ENST00000398219.2 | c.452G>C | p.Cys151Ser | missense_variant | 3/4 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.700 AC: 106378AN: 152004Hom.: 37963 Cov.: 32
GnomAD3 exomes AF: 0.677 AC: 170317AN: 251460Hom.: 59674 AF XY: 0.676 AC XY: 91806AN XY: 135900
GnomAD4 exome AF: 0.736 AC: 1076042AN: 1461868Hom.: 402024 Cov.: 70 AF XY: 0.729 AC XY: 530519AN XY: 727238
GnomAD4 genome ? AF: 0.700 AC: 106436AN: 152122Hom.: 37979 Cov.: 32 AF XY: 0.690 AC XY: 51282AN XY: 74352
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at