10-70432959-C-A
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_018055.5(NODAL):c.1021G>T(p.Val341Leu) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V341M) has been classified as Uncertain significance.
Frequency
Consequence
NM_018055.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NODAL | NM_018055.5 | c.1021G>T | p.Val341Leu | missense_variant | Exon 3 of 3 | ENST00000287139.8 | NP_060525.3 | |
NODAL | NM_001329906.2 | c.622G>T | p.Val208Leu | missense_variant | Exon 3 of 3 | NP_001316835.1 | ||
NODAL | XM_024448028.2 | c.622G>T | p.Val208Leu | missense_variant | Exon 3 of 3 | XP_024303796.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Heart, malformation of Uncertain:1
only with TBX20 mutation, congenital heart disease occurred -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.