rs1192514
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Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_ModerateBP7BA1
The NM_001304369.2(ANKRD60):c.357G>A(p.Arg119=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.279 in 1,551,084 control chromosomes in the GnomAD database, including 62,922 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.28 ( 6218 hom., cov: 31)
Exomes 𝑓: 0.28 ( 56704 hom. )
Consequence
ANKRD60
NM_001304369.2 synonymous
NM_001304369.2 synonymous
Scores
1
1
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.159
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -11 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.32).
BP7
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Synonymous conserved (PhyloP=0.159 with no splicing effect.
BA1
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GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.401 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ANKRD60 | NM_001304369.2 | c.357G>A | p.Arg119= | synonymous_variant | 1/4 | ENST00000457363.2 | |
ANKRD60 | XM_047439902.1 | c.357G>A | p.Arg119= | synonymous_variant | 1/4 | ||
ANKRD60 | XM_047439903.1 | c.357G>A | p.Arg119= | synonymous_variant | 1/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANKRD60 | ENST00000457363.2 | c.357G>A | p.Arg119= | synonymous_variant | 1/4 | 5 | NM_001304369.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.279 AC: 42341AN: 151862Hom.: 6201 Cov.: 31
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GnomAD3 exomes AF: 0.327 AC: 50599AN: 154606Hom.: 8997 AF XY: 0.331 AC XY: 27105AN XY: 81876
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GnomAD4 exome AF: 0.279 AC: 389942AN: 1399104Hom.: 56704 Cov.: 36 AF XY: 0.284 AC XY: 195717AN XY: 690068
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GnomAD4 genome ? AF: 0.279 AC: 42398AN: 151980Hom.: 6218 Cov.: 31 AF XY: 0.282 AC XY: 20935AN XY: 74290
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ClinVar
Not reported inComputational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Uncertain
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at