chr4-40119942-G-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_018177.6(N4BP2):āc.1831G>Cā(p.Asp611His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000081 in 1,234,634 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 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. D611N) has been classified as Likely benign.
Frequency
Consequence
NM_018177.6 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 |
---|---|---|---|---|---|---|---|
N4BP2 | NM_018177.6 | c.1831G>C | p.Asp611His | missense_variant | 9/18 | ENST00000261435.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
N4BP2 | ENST00000261435.11 | c.1831G>C | p.Asp611His | missense_variant | 9/18 | 5 | NM_018177.6 | P1 | |
N4BP2 | ENST00000513269.1 | c.772G>C | p.Asp258His | missense_variant | 6/15 | 1 | |||
N4BP2 | ENST00000511480.5 | c.*1622G>C | 3_prime_UTR_variant, NMD_transcript_variant | 10/19 | 1 | ||||
N4BP2 | ENST00000706658.1 | c.*1622G>C | 3_prime_UTR_variant, NMD_transcript_variant | 12/21 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 8.10e-7 AC: 1AN: 1234634Hom.: 0 Cov.: 18 AF XY: 0.00 AC XY: 0AN XY: 618638
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at