chr1-70270934-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_ModerateBP6_Moderate
The NM_030816.5(ANKRD13C):c.1417G>A(p.Val473Ile) variant causes a missense change. The variant allele was found at a frequency of 0.00000411 in 1,458,802 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_030816.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ANKRD13C | ENST00000370944.9 | c.1417G>A | p.Val473Ile | missense_variant | Exon 12 of 13 | 1 | NM_030816.5 | ENSP00000359982.4 | ||
ANKRD13C | ENST00000262346.6 | c.1312G>A | p.Val438Ile | missense_variant | Exon 11 of 12 | 1 | ENSP00000262346.6 | |||
ANKRD13C | ENST00000464236.1 | n.201G>A | non_coding_transcript_exon_variant | Exon 3 of 4 | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 250066Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135328
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1458802Hom.: 1 Cov.: 28 AF XY: 0.00000276 AC XY: 2AN XY: 725876
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at