rs36170987
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_020223.4(FAM20C):c.1659G>T(p.Val553Val) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.46 in 1,535,618 control chromosomes in the GnomAD database, including 166,710 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_020223.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.524 AC: 79666AN: 152036Hom.: 21840 Cov.: 35
GnomAD3 exomes AF: 0.438 AC: 61566AN: 140424Hom.: 14510 AF XY: 0.439 AC XY: 33110AN XY: 75414
GnomAD4 exome AF: 0.453 AC: 626956AN: 1383464Hom.: 144829 Cov.: 74 AF XY: 0.452 AC XY: 308680AN XY: 682612
GnomAD4 genome AF: 0.524 AC: 79759AN: 152154Hom.: 21881 Cov.: 35 AF XY: 0.524 AC XY: 38983AN XY: 74362
ClinVar
Submissions by phenotype
not specified Benign:2
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p.Val553Val in exon 10 of FAM20C: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 75.19% (994/1322) of African chromosomes by the 1000 Genomes Project (Phase 3; dbSNP rs36170987). -
not provided Benign:2
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Lethal osteosclerotic bone dysplasia Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at