NM_004786.3:c.495G>C
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_004786.3(TXNL1):c.495G>C(p.Leu165Leu) variant causes a splice region, synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000268 in 1,613,190 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_004786.3 splice_region, synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TXNL1 | NM_004786.3 | c.495G>C | p.Leu165Leu | splice_region_variant, synonymous_variant | Exon 5 of 8 | ENST00000217515.11 | NP_004777.1 | |
TXNL1 | XM_024451289.2 | c.495G>C | p.Leu165Leu | splice_region_variant, synonymous_variant | Exon 5 of 9 | XP_024307057.1 | ||
TXNL1 | XM_024451290.2 | c.495G>C | p.Leu165Leu | splice_region_variant, synonymous_variant | Exon 5 of 8 | XP_024307058.1 | ||
TXNL1 | NR_024546.2 | n.752G>C | splice_region_variant, non_coding_transcript_exon_variant | Exon 6 of 9 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00157 AC: 238AN: 151866Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000394 AC: 99AN: 251070Hom.: 1 AF XY: 0.000258 AC XY: 35AN XY: 135726
GnomAD4 exome AF: 0.000132 AC: 193AN: 1461212Hom.: 1 Cov.: 30 AF XY: 0.000107 AC XY: 78AN XY: 726926
GnomAD4 genome AF: 0.00157 AC: 239AN: 151978Hom.: 1 Cov.: 32 AF XY: 0.00141 AC XY: 105AN XY: 74280
ClinVar
Submissions by phenotype
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at