rs387906384
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PM4_Supporting
The NM_002500.5(NEUROD1):c.614_616del(p.Pro205del) variant causes a inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,704 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P205P) has been classified as Likely benign.
Frequency
Consequence
NM_002500.5 inframe_deletion
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NEUROD1 | NM_002500.5 | c.614_616del | p.Pro205del | inframe_deletion | 2/2 | ENST00000295108.4 | |
NEUROD1 | NR_146175.2 | n.88+2183_88+2185del | intron_variant, non_coding_transcript_variant | ||||
NEUROD1 | NR_146176.2 | n.88+2183_88+2185del | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NEUROD1 | ENST00000295108.4 | c.614_616del | p.Pro205del | inframe_deletion | 2/2 | 1 | NM_002500.5 | P1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 250042Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135476
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461704Hom.: 0 AF XY: 0.00000138 AC XY: 1AN XY: 727156
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at