rs377497281
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP6_Very_Strong
The NM_031475.3(ESPN):c.1947G>A(p.Thr649Thr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000036 in 1,613,066 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_031475.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152206Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000124 AC: 31AN: 249660Hom.: 1 AF XY: 0.000111 AC XY: 15AN XY: 135344
GnomAD4 exome AF: 0.0000363 AC: 53AN: 1460860Hom.: 1 Cov.: 32 AF XY: 0.0000399 AC XY: 29AN XY: 726708
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152206Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74362
ClinVar
Submissions by phenotype
not provided Benign:2
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not specified Benign:1
p.Thr649Thr in intron 9 of ESPN: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence and has been identified in 19/61576 of European chromosomes, including 1 homozygote individual, by the Exome Aggregation Consor tium (ExAC, http://exac.broadinstitute.org; dbSNP rs377497281). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at