rs7594480
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_145259.3(ACVR1C):c.1444A>G(p.Ile482Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0774 in 1,591,998 control chromosomes in the GnomAD database, including 8,877 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_145259.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ACVR1C | NM_145259.3 | c.1444A>G | p.Ile482Val | missense_variant | 9/9 | ENST00000243349.13 | |
ACVR1C | NM_001111031.2 | c.1294A>G | p.Ile432Val | missense_variant | 9/9 | ||
ACVR1C | NM_001111032.2 | c.1204A>G | p.Ile402Val | missense_variant | 8/8 | ||
ACVR1C | NM_001111033.2 | c.973A>G | p.Ile325Val | missense_variant | 7/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACVR1C | ENST00000243349.13 | c.1444A>G | p.Ile482Val | missense_variant | 9/9 | 1 | NM_145259.3 | P1 | |
ACVR1C | ENST00000409680.7 | c.1294A>G | p.Ile432Val | missense_variant | 9/9 | 1 | |||
ACVR1C | ENST00000335450.7 | c.1204A>G | p.Ile402Val | missense_variant | 8/8 | 1 | |||
ACVR1C | ENST00000348328.9 | c.973A>G | p.Ile325Val | missense_variant | 7/7 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.154 AC: 23456AN: 151950Hom.: 3294 Cov.: 31
GnomAD3 exomes AF: 0.0829 AC: 19211AN: 231782Hom.: 1684 AF XY: 0.0729 AC XY: 9156AN XY: 125644
GnomAD4 exome AF: 0.0693 AC: 99775AN: 1439930Hom.: 5579 Cov.: 31 AF XY: 0.0664 AC XY: 47532AN XY: 716244
GnomAD4 genome ? AF: 0.154 AC: 23488AN: 152068Hom.: 3298 Cov.: 31 AF XY: 0.150 AC XY: 11175AN XY: 74358
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Apr 19, 2019 | This variant is associated with the following publications: (PMID: 30389748) - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at