rs876657540
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001164507.2(NEB):c.13276G>C(p.Asp4426His) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 11/17 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D4426N) has been classified as Likely benign.
Frequency
Consequence
NM_001164507.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NEB | NM_001164507.2 | c.13276G>C | p.Asp4426His | missense_variant | 87/182 | ENST00000427231.7 | |
NEB | NM_001164508.2 | c.13276G>C | p.Asp4426His | missense_variant | 87/182 | ENST00000397345.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NEB | ENST00000397345.8 | c.13276G>C | p.Asp4426His | missense_variant | 87/182 | 5 | NM_001164508.2 | P5 | |
NEB | ENST00000427231.7 | c.13276G>C | p.Asp4426His | missense_variant | 87/182 | 5 | NM_001164507.2 | A2 | |
NEB | ENST00000409198.5 | c.11601+7130G>C | intron_variant | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 0
GnomAD4 exome Cov.: 0
GnomAD4 genome ? Cov.: 0
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at