chr2-151697590-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001164507.2(NEB):c.1211C>A(p.Thr404Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000124 in 1,613,026 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. T404I) has been classified as Uncertain significance.
Frequency
Consequence
NM_001164507.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NEB | NM_001164507.2 | c.1211C>A | p.Thr404Asn | missense_variant | 14/182 | ENST00000427231.7 | |
NEB | NM_001164508.2 | c.1211C>A | p.Thr404Asn | missense_variant | 14/182 | ENST00000397345.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NEB | ENST00000397345.8 | c.1211C>A | p.Thr404Asn | missense_variant | 14/182 | 5 | NM_001164508.2 | P5 | |
NEB | ENST00000427231.7 | c.1211C>A | p.Thr404Asn | missense_variant | 14/182 | 5 | NM_001164507.2 | A2 | |
NEB | ENST00000489048.1 | n.110C>A | non_coding_transcript_exon_variant | 2/12 | 1 | ||||
NEB | ENST00000409198.5 | c.1211C>A | p.Thr404Asn | missense_variant | 14/150 | 5 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152026Hom.: 0 Cov.: 33
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460882Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726714
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152144Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74366
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.