rs368876425
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001164507.2(NEB):c.18831G>T(p.Thr6277=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000691 in 1,447,824 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. T6277T) has been classified as Likely benign.
Frequency
Consequence
NM_001164507.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NEB | NM_001164507.2 | c.18831G>T | p.Thr6277= | synonymous_variant | 120/182 | ENST00000427231.7 | |
NEB | NM_001164508.2 | c.18831G>T | p.Thr6277= | synonymous_variant | 120/182 | ENST00000397345.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NEB | ENST00000397345.8 | c.18831G>T | p.Thr6277= | synonymous_variant | 120/182 | 5 | NM_001164508.2 | P5 | |
NEB | ENST00000427231.7 | c.18831G>T | p.Thr6277= | synonymous_variant | 120/182 | 5 | NM_001164507.2 | A2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000408 AC: 1AN: 245130Hom.: 0 AF XY: 0.00000753 AC XY: 1AN XY: 132788
GnomAD4 exome AF: 6.91e-7 AC: 1AN: 1447824Hom.: 0 Cov.: 31 AF XY: 0.00000139 AC XY: 1AN XY: 717978
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at