chr4-40119942-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_018177.6(N4BP2):c.1831G>A(p.Asp611Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.771 in 1,381,106 control chromosomes in the GnomAD database, including 414,005 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 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 nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_018177.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
N4BP2 | NM_018177.6 | c.1831G>A | p.Asp611Asn | missense_variant | 9/18 | ENST00000261435.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
N4BP2 | ENST00000261435.11 | c.1831G>A | p.Asp611Asn | missense_variant | 9/18 | 5 | NM_018177.6 | P1 | |
N4BP2 | ENST00000513269.1 | c.772G>A | p.Asp258Asn | missense_variant | 6/15 | 1 | |||
N4BP2 | ENST00000511480.5 | c.*1622G>A | 3_prime_UTR_variant, NMD_transcript_variant | 10/19 | 1 | ||||
N4BP2 | ENST00000706658.1 | c.*1622G>A | 3_prime_UTR_variant, NMD_transcript_variant | 12/21 |
Frequencies
GnomAD3 genomes AF: 0.764 AC: 116107AN: 151920Hom.: 44729 Cov.: 32
GnomAD3 exomes AF: 0.810 AC: 158083AN: 195264Hom.: 64685 AF XY: 0.813 AC XY: 85899AN XY: 105626
GnomAD4 exome AF: 0.772 AC: 949229AN: 1229068Hom.: 369249 Cov.: 18 AF XY: 0.778 AC XY: 479233AN XY: 616012
GnomAD4 genome AF: 0.764 AC: 116192AN: 152038Hom.: 44756 Cov.: 32 AF XY: 0.770 AC XY: 57247AN XY: 74304
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at