chr17-47824260-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_145255.4(MRPL10):c.731A>T(p.Asp244Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000682 in 1,614,000 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_145255.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MRPL10 | NM_145255.4 | c.731A>T | p.Asp244Val | missense_variant | 5/5 | ENST00000351111.7 | |
MRPL10 | NM_148887.3 | c.761A>T | p.Asp254Val | missense_variant | 6/6 | ||
MRPL10 | XM_024450575.2 | c.761A>T | p.Asp254Val | missense_variant | 6/6 | ||
MRPL10 | NR_037575.2 | n.910A>T | non_coding_transcript_exon_variant | 5/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MRPL10 | ENST00000351111.7 | c.731A>T | p.Asp244Val | missense_variant | 5/5 | 1 | NM_145255.4 | P1 | |
MRPL10 | ENST00000290208.11 | c.761A>T | p.Asp254Val | missense_variant | 5/5 | 2 | |||
MRPL10 | ENST00000414011.1 | c.761A>T | p.Asp254Val | missense_variant | 6/6 | 3 | |||
MRPL10 | ENST00000421763.5 | c.*733A>T | 3_prime_UTR_variant, NMD_transcript_variant | 5/5 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152108Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251440Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135910
GnomAD4 exome AF: 0.00000684 AC: 10AN: 1461892Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 727248
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152108Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74312
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 13, 2023 | The c.761A>T (p.D254V) alteration is located in exon 6 (coding exon 5) of the MRPL10 gene. This alteration results from a A to T substitution at nucleotide position 761, causing the aspartic acid (D) at amino acid position 254 to be replaced by a valine (V). 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