7-259915-A-G
Variant summary
Our verdict is Benign. Variant got -18 ACMG points: 2P and 20B. PM1BP4_StrongBP6_Very_StrongBA1
The NM_020223.4(FAM20C):āc.1690A>Gā(p.Asn564Asp) variant causes a missense change. The variant allele was found at a frequency of 0.458 in 1,534,002 control chromosomes in the GnomAD database, including 164,582 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. N564H) has been classified as Uncertain significance.
Frequency
Consequence
NM_020223.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -18 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FAM20C | NM_020223.4 | c.1690A>G | p.Asn564Asp | missense_variant | 10/10 | ENST00000313766.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAM20C | ENST00000313766.6 | c.1690A>G | p.Asn564Asp | missense_variant | 10/10 | 1 | NM_020223.4 | P1 | |
FAM20C | ENST00000515795.1 | n.1347A>G | non_coding_transcript_exon_variant | 7/7 | 1 |
Frequencies
GnomAD3 genomes AF: 0.515 AC: 78372AN: 152054Hom.: 20974 Cov.: 35
GnomAD3 exomes AF: 0.436 AC: 61169AN: 140220Hom.: 14317 AF XY: 0.437 AC XY: 32948AN XY: 75324
GnomAD4 exome AF: 0.452 AC: 624259AN: 1381830Hom.: 143569 Cov.: 66 AF XY: 0.451 AC XY: 307215AN XY: 681428
GnomAD4 genome AF: 0.516 AC: 78462AN: 152172Hom.: 21013 Cov.: 35 AF XY: 0.516 AC XY: 38407AN XY: 74382
ClinVar
Submissions by phenotype
not specified Benign:2
Benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Mar 21, 2016 | p.Asn564Asp in exon 10 of FAM20C: This variant is not expected to have clinical significance because it has been identified in 72.54% (959/1322) of African chro mosomes by the 1000 Genomes Project (Phase 3; dbSNP rs36139924). - |
Benign, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Oct 20, 2014 | - - |
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | GeneDx | Nov 11, 2018 | - - |
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Lethal osteosclerotic bone dysplasia Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Jul 14, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at