NM_203408.4:c.1680T>C
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_203408.4(FAM47A):c.1680T>C(p.Pro560Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000141 in 1,208,423 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 52 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_203408.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000662 AC: 73AN: 110193Hom.: 0 Cov.: 22 AF XY: 0.000768 AC XY: 25AN XY: 32567
GnomAD3 exomes AF: 0.000170 AC: 31AN: 181953Hom.: 0 AF XY: 0.000104 AC XY: 7AN XY: 67435
GnomAD4 exome AF: 0.0000883 AC: 97AN: 1098179Hom.: 0 Cov.: 31 AF XY: 0.0000743 AC XY: 27AN XY: 363533
GnomAD4 genome AF: 0.000662 AC: 73AN: 110244Hom.: 0 Cov.: 22 AF XY: 0.000766 AC XY: 25AN XY: 32628
ClinVar
Submissions by phenotype
FAM47A-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
not provided Benign:1
FAM47A: BP4, BP7 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at