NM_030948.6:c.201C>T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_ModerateBP6_ModerateBP7BS2
The NM_030948.6(PHACTR1):c.201C>T(p.Ser67Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00138 in 1,611,934 control chromosomes in the GnomAD database, including 6 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_030948.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00135 AC: 205AN: 151638Hom.: 0 Cov.: 27
GnomAD3 exomes AF: 0.00134 AC: 323AN: 241082Hom.: 1 AF XY: 0.00143 AC XY: 189AN XY: 132364
GnomAD4 exome AF: 0.00139 AC: 2024AN: 1460188Hom.: 6 Cov.: 33 AF XY: 0.00143 AC XY: 1036AN XY: 726400
GnomAD4 genome AF: 0.00135 AC: 205AN: 151746Hom.: 0 Cov.: 27 AF XY: 0.00154 AC XY: 114AN XY: 74176
ClinVar
Submissions by phenotype
PHACTR1-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
PHACTR1: BP4, BP7 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at