NM_003111.5:c.2142A>G
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP7BS2
The NM_003111.5(SP3):āc.2142A>Gā(p.Thr714Thr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000601 in 1,613,790 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. T714T) has been classified as Benign.
Frequency
Consequence
NM_003111.5 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SP3 | NM_003111.5 | c.2142A>G | p.Thr714Thr | synonymous_variant | Exon 7 of 7 | ENST00000310015.12 | NP_003102.1 | |
SP3 | NM_001172712.1 | c.2133A>G | p.Thr711Thr | synonymous_variant | Exon 7 of 7 | NP_001166183.1 | ||
SP3 | NM_001017371.5 | c.1938A>G | p.Thr646Thr | synonymous_variant | Exon 5 of 5 | NP_001017371.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000328 AC: 5AN: 152216Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 250826Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135542
GnomAD4 exome AF: 0.0000629 AC: 92AN: 1461574Hom.: 0 Cov.: 31 AF XY: 0.0000646 AC XY: 47AN XY: 727066
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152216Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74374
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at