NM_001004317.4:c.62C>A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001004317.4(LIN28B):c.62C>A(p.Ala21Glu) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001004317.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LIN28B | NM_001004317.4 | c.62C>A | p.Ala21Glu | missense_variant | Exon 2 of 4 | ENST00000345080.5 | NP_001004317.1 | |
LIN28B | NM_001410939.1 | c.86C>A | p.Ala29Glu | missense_variant | Exon 3 of 5 | NP_001397868.1 | ||
LIN28B | XM_006715477.3 | c.119C>A | p.Ala40Glu | missense_variant | Exon 3 of 5 | XP_006715540.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LIN28B | ENST00000345080.5 | c.62C>A | p.Ala21Glu | missense_variant | Exon 2 of 4 | 1 | NM_001004317.4 | ENSP00000344401.4 | ||
LIN28B | ENST00000637759.1 | c.86C>A | p.Ala29Glu | missense_variant | Exon 3 of 5 | 5 | ENSP00000490468.1 | |||
LIN28B | ENST00000635857.1 | c.119C>A | p.Ala40Glu | missense_variant | Exon 4 of 6 | 5 | ENSP00000489735.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.62C>A (p.A21E) alteration is located in exon 2 (coding exon 2) of the LIN28B gene. This alteration results from a C to A substitution at nucleotide position 62, causing the alanine (A) at amino acid position 21 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.