2-86210570-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_016622.4(MRPL35):c.469C>G(p.Leu157Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000151 in 1,461,682 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016622.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MRPL35 | NM_016622.4 | c.469C>G | p.Leu157Val | missense_variant | Exon 4 of 4 | ENST00000337109.9 | NP_057706.2 | |
MRPL35 | NM_001363782.1 | c.469C>G | p.Leu157Val | missense_variant | Exon 4 of 5 | NP_001350711.1 | ||
MRPL35 | NM_145644.3 | c.469C>G | p.Leu157Val | missense_variant | Exon 4 of 5 | NP_663619.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MRPL35 | ENST00000337109.9 | c.469C>G | p.Leu157Val | missense_variant | Exon 4 of 4 | 1 | NM_016622.4 | ENSP00000338389.4 | ||
MRPL35 | ENST00000254644.12 | c.469C>G | p.Leu157Val | missense_variant | Exon 4 of 5 | 1 | ENSP00000254644.7 | |||
MRPL35 | ENST00000409180.1 | c.469C>G | p.Leu157Val | missense_variant | Exon 4 of 5 | 3 | ENSP00000386255.1 | |||
MRPL35 | ENST00000605125.5 | c.*36C>G | 3_prime_UTR_variant | Exon 3 of 3 | 2 | ENSP00000473925.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251330Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135854
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1461682Hom.: 0 Cov.: 31 AF XY: 0.0000110 AC XY: 8AN XY: 727154
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.469C>G (p.L157V) alteration is located in exon 4 (coding exon 4) of the MRPL35 gene. This alteration results from a C to G substitution at nucleotide position 469, causing the leucine (L) at amino acid position 157 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