NM_004553.6:c.29T>G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004553.6(NDUFS6):c.29T>G(p.Leu10Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000436 in 1,605,126 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. L10L) has been classified as Likely benign.
Frequency
Consequence
NM_004553.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NDUFS6 | NM_004553.6 | c.29T>G | p.Leu10Arg | missense_variant | Exon 1 of 4 | ENST00000274137.10 | NP_004544.1 | |
MRPL36 | XM_011514080.3 | c.-80A>C | upstream_gene_variant | XP_011512382.1 | ||||
MRPL36 | XM_017009751.3 | c.-221A>C | upstream_gene_variant | XP_016865240.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NDUFS6 | ENST00000274137.10 | c.29T>G | p.Leu10Arg | missense_variant | Exon 1 of 4 | 1 | NM_004553.6 | ENSP00000274137.6 | ||
NDUFS6 | ENST00000469176.1 | c.29T>G | p.Leu10Arg | missense_variant | Exon 1 of 3 | 2 | ENSP00000422557.1 | |||
NDUFS6 | ENST00000510329.1 | n.26T>G | non_coding_transcript_exon_variant | Exon 1 of 2 | 3 | |||||
MRPL36 | ENST00000505818.1 | c.-125A>C | upstream_gene_variant | 3 | ENSP00000427152.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152240Hom.: 0 Cov.: 36
GnomAD4 exome AF: 0.00000413 AC: 6AN: 1452886Hom.: 0 Cov.: 33 AF XY: 0.00000415 AC XY: 3AN XY: 722794
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152240Hom.: 0 Cov.: 36 AF XY: 0.0000134 AC XY: 1AN XY: 74388
ClinVar
Submissions by phenotype
not provided Uncertain:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at