rs2339844
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_020409.3(MRPL47):āc.28T>Gā(p.Cys10Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.086 in 1,614,094 control chromosomes in the GnomAD database, including 6,803 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 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_020409.3 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MRPL47 | NM_020409.3 | c.28T>G | p.Cys10Gly | missense_variant | 1/7 | ENST00000476781.6 | NP_065142.2 | |
MRPL47 | NM_177988.1 | c.-157T>G | 5_prime_UTR_variant | 1/6 | NP_817125.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MRPL47 | ENST00000476781.6 | c.28T>G | p.Cys10Gly | missense_variant | 1/7 | 1 | NM_020409.3 | ENSP00000417602 | P1 | |
MRPL47 | ENST00000259038.6 | c.28T>G | p.Cys10Gly | missense_variant | 1/7 | 1 | ENSP00000259038 | |||
MRPL47 | ENST00000392659.2 | c.-157T>G | 5_prime_UTR_variant | 1/6 | 1 | ENSP00000376427 |
Frequencies
GnomAD3 genomes AF: 0.0910 AC: 13842AN: 152168Hom.: 686 Cov.: 33
GnomAD3 exomes AF: 0.104 AC: 26214AN: 251370Hom.: 1626 AF XY: 0.105 AC XY: 14284AN XY: 135876
GnomAD4 exome AF: 0.0854 AC: 124869AN: 1461808Hom.: 6114 Cov.: 32 AF XY: 0.0875 AC XY: 63651AN XY: 727204
GnomAD4 genome AF: 0.0911 AC: 13867AN: 152286Hom.: 689 Cov.: 33 AF XY: 0.0942 AC XY: 7012AN XY: 74458
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at